CASE 16: A NEONATE WITH A BIRTHMARK ON THE FACE
A girl of 30 weeks’ gestation is noted shortly after birth to have a red patch on the left face. The patch involves the left forehead, extending onto the scalp, and onto the left upper eyelid. Initially the lesion is flat and partially blanching. Over the subsequent 2-3 weeks the patch becomes more raised, with a pebbly surface. It is noted that the left eye is not as wide open as the right (Figure 16-1).
SELECT THE ONE BEST ANSWER
1. What is the most likely diagnosis?
(B) port wine stain
(C) capillary malformation
(E) nevus sebaceous
2. What syndrome might be associated with this lesion?
(A) Sturge-Weber syndrome
(B) Klippel-Trenaunay syndrome
(C) A neurofibromatosis syndrome
(D) Tuberous sclerosis syndrome
(E) PHACE syndrome
3. The imaging study most likely to support a diagnosis of this syndrome?
(A) magnetic resonance imaging (MRI) of the spine
(B) MRI of the head
(C) renal ultrasound
(D) electrocardiogram (ECG)
(E) spinal ultrasound
4. The most appropriate management of this lesion includes
(B) systemic corticosteroids
(D) laser therapy
(E) interferon alpha
5. You educate the parents to expect that this lesion will
(A) be gone by 2 years of age
(B) remain stable in size and appearance through childhood
(C) gradually flatten and fade through childhood
(D) require surgical excision
(E) carry a risk for malignant degeneration over the lifetime of the patient
6. The parents report that this child’s cousin has a hairless plaque in the scalp with a pebbly surface and orange hue (Figure 16-2). You are concerned that the child’s cousin might have an increased risk for
(B) basal cell carcinoma
(C) tinea capitis
(D) alopecia areata
(E) tethered spinal cord
7. An 8-year-old boy presents for evaluation of a birthmark on the abdomen (Figure 16-3). You recommend
(A) immediate excision
(C) radiographic examination
(D) laser therapy
FIGURE 16-1. See color plates.
8. At a newborn’s 1-month follow-up appointment the parents note a lesion on the child’s back that has occasionally appeared raised and fluid filled (Figure 16-4). A helpful examination technique is
(A) firm stroking of the lesion
(B) palpation for a thrill
(E) potassium hydroxide (KOH) prep
FIGURE 16-2. See color plates.
FIGURE 16-3. See color plates.
9. Based on your findings, you prescribe
(A) hydrocortisone ointment
(B) hydroxyzine suspension
(C) permethrin cream
(E) acyclovir suspension
10. One month later, the child presents with multiple tan brown plaques, some with a thickened surface, over the trunk and extremities (Figure 16-5). You inform the parents
(A) the child needs a bone marrow biopsy
(B) the child needs a bone marrow transplant
(C) these lesions will fade and resolve by 10-12 years of age
(D) the child has neurofibromatosis
(E) the child needs a rapid plasma reagin (RPR)
FIGURE 16-4. See color plates.
FIGURE 16-5. See color plates.
1. (A) This patient has a hemangioma. The description of the lesion becoming thicker and more nodular over the first couple of weeks of life is typical of the proliferative behavior of a hemangioma, as opposed to the stable nature of a port wine stain or other vascular malformations. Capillary malformation and port wine stain are synonymous. Angiosarcoma is a proliferative tumor, as is hemangioma. However it is extremely rare in newborns, whereas hemangiomas are present in up to 10% of 1-year-olds. Nevus sebaceous is classically located on the head, especially scalp, and is usually pebbly but not typically red in color or progressive as described.
2. (E) PHACES syndrome is the association of a large plaque-type facial hemangioma with posterior fossa defects, arterial defects, cardiac defects, eye abnormalities, and a sternal raphe. Sturge-Weber syndrome is associated with facial port wine stains most often in the ophthalmic (V1) distribution of the trigeminal nerve; Klippel-Trenaunay syndrome is associated with port wine stains on the extremities and limb overgrowth. Neurofibromatosis and tuberous sclerosis are not typically associated with vascular birthmarks.
3. (B) An MRI of the head will identify the presence of a posterior fossa defect. It would also be an appropriate study to evaluate the presence of intracranial vascular malformations seen in Sturge-Weber syndrome. An echocardiogram might also be indicated to look for the cardiac features of PHACES syndrome; however, a good cardiac examination may obviate the need for an echocardiogram in all cases.
4. (B) The patient is experiencing early obstruction of the visual axis as a result of proliferation of the portion of the hemangioma involving the upper eyelid; therefore, intervention is indicated. Use of systemic corticosteroids is the best choice of the answers. It is beneficial in temporizing the growth and may expedite involution of hemangiomas during the active growth phase. It will also be critical to involve ophthalmology to follow this patient’s visual development. Laser therapy does not have a role in management of hemangiomas during the acute growth phase when the function of a critical structure is compromised. Laser cannot penetrate deeply enough into a hemangioma to decrease its bulk in most cases. Interferon alpha has been used in life-threatening hemangiomas, but the risk of irreversible spastic diplegia is a limitation.
5. (C) Hemangiomas undergo a proliferative growth phase during the first year of life. Subsequently they enter an involutional phase that may last up to 10 years or longer. Therefore, the flattening and fading observed occurs slowly and gradually over years. Port wine stains and other vascular malformations are stable, nonproliferative lesions and do not undergo involution. Surgical excision may be necessary ultimately to remove the residua of some hemangiomas, but in most cases it is best undertaken once a significant portion of the spontaneous involution has occurred. Some hemangiomas may leave superficial telangiectasias; these can be treated with laser therapy to decrease residual redness on the skin surface. Hemangiomas do not develop malignant neoplasms within them.
6. (B) A nevus sebaceous is a hamartoma of sebaceous glands typically seen in the scalp. They are hairless, slightly pebbly, and yellowish plaques in childhood, which may become more raised and nodular in adolescence. There is an increased risk of basal cell carcinoma developing in these lesions over the lifetime of the individual, typically not before young adulthood. Melanoma has not been associated with this lesion. Tinea capitis may cause hair loss, but generally there are also findings of scale, crust, broken hairs, and lymphadenopathy. Alopecia areata is a nonscarring form of alopecia that can occur at any age. Areas of hair loss are smooth without surface change. A nevus sebaceous is not typically associated with a risk for tethered spinal cord.
7. (E) A congenital nevus is a nevomelanocytic lesion present from birth. They are classified by size as small (0-1.5 cm), medium (1.5-19 cm), and large (≥20 cm). There is an increased risk of malignant melanoma in the large lesions, and these tumors have been reported in children before the age of 5 years. The medium and small lesions have a smaller risk of malignancy, and it is generally believed that this transformation rarely occurs before adolescence. Therefore, small and medium lesions may be observed for atypical changes or electively excised. Large congenital nevi are often technically difficult to excise. Laser procedures are not likely to remove all involved components of the lesion and therefore may not eliminate the risk of melanoma. There is no role for radiographic examination or cryotherapy.
8. (A) Solitary mastocytomas are not uncommon in infants. They appear as reddish brown plaques, sometimes with a slightly pebbled surface, and can become redder and more swollen with irritation, occasionally even blistering. As a diagnostic test, the lesion may be stroked firmly and observed for the reaction of redness and swelling; this is known as a Darier sign. Diascopy refers to applying pressure to a red lesion in an attempt to blanch it by temporarily clearing the intravascular blood locally. This technique is used to evaluate vascular lesions such as vasculitis and purpura. Transillumination and palpation for a thrill will not be revealing in the case of a mastocytoma. This history and examination are not suggestive of a cutaneous fungal infection; thus a scraping stained with KOH is unlikely to be helpful.
9. (B) Systemic antihistamines are useful in mast cell disease to decrease the symptoms associated with mast cell degranulation. Histamine is the prominent mast cell mediator, and degranulation of mast cell collections in the skin may occur spontaneously, with minor trauma or friction over a lesion, with environmental stimuli such as sudden heat or cold, and with many medications. Release of histamine causes lesions to become reddened, edematous, sometimes blistered, and often itchy. Use of systemic antihistamines can block or modify this response. Topical corticosteroids may be somewhat soothing but likely are not preventive. There is no role for permethrin or acyclovir in the management of mast cell disease. Excision might be curative for a single lesion but is not generally recommended.
10. (C) Urticaria pigmentosa is the condition of multiple cutaneous collections of mast cells that accumulate during infancy and childhood. The number of lesions can vary from few to innumerable. Childhood urticaria pigmentosa is rarely associated with systemic manifestations. Lesions tend to accumulate during the first few years of life, then stabilize, and gradually fade and involute by early adolescence. Some patients will have complete clearance; others will experience significant improvement. Adult-onset mast cell disease is associated with an increased risk of mast cell leukemia and other myelodysplasias; this has not been observed in the juvenile form.
Bruckner AL, Frieden IJ. Hemangiomas of infancy. J Am Acad Dermatol. 2003;48:477-493.
Metry DW, Hebert AA. Benign cutaneous vascular tumors of infancy: when to worry, what to do. Arch Dermatol. 2000;136(7):905-914.
Prose NS, Antaya RJ. Neoplastic and infiltrative diseases. In: Eichenfield LF, Frieden IJ, Esterly NB, eds. Textbook of Neonatal Dermatology. Philadelphia, PA: WB Saunders; 2001:442-444.
CASE 17: A NEONATE GIRL WITH VESICLES
A 5-day-old female infant is brought to the emergency department for evaluation of a rash. The child’s mother states that she has noticed small pus bumps developing on the infant’s face, body, and hands and feet. This is the first child of this young mother. She is also concerned because the child is spitting up her formula and sleeps a lot during the daytime but not at night. She is unsure whether the infant has had fever. She is also complaining of a new fever blister on her own lip.
On examination, pustules and vesicles are scattered on the chin, trunk, and palms and soles. Additionally, there are hyperpigmented macules and some areas of scaling at the edge of the macules. The child is afebrile, vigorous, and has moist lips and a wet diaper.
SELECT THE ONE BEST ANSWER
1. A smear of a pustule is obtained and stained with Wright stain. Microscopic findings reveal
(A) sheets of eosinophils
(B) mites, feces, and ova
(C) multinucleated giant cells
(D) hyphae and spores
(E) sheets of neutrophils
2. The best course of action is to
(A) perform a septic workup, including urinalysis, complete blood count (CBC), blood culture, and lumbar puncture
(B) admit the patient for intravenous (IV) antiviral therapy
(C) reassure the mother and discharge the patient home
(D) send a culture of the pustule fluid
(E) treat the infant with permethrin cream
3. At this infant’s 1-month visit to the pediatrician, her mother is again concerned about a skin rash. She notes many red bumps on the face as well as a few pus bumps. She also is distressed by the many hyperpigmented marks on the trunk (Figure 17-1). The best management is
(A) hydrocortisone ointment to the rash twice daily
(B) benzoyl peroxide gel to the rash daily
(C) mupirocin ointment to the rash 3 times a day
(D) observation and reassurance
(E) ketoconazole cream to the rash daily
FIGURE 17-1. See color plates.
FIGURE 17-2. See color plates.
4. A 6-month-old male boy presents for evaluation of an erythematous plaque on the cheek, with a few small vesicles, moist surface, and yellow crust. The patient’s mother reports that this rash just developed in the last day and she has noticed the child scratching at it. Which of the following diagnostic tests is positive (Figure 17-2)?
(A) Tzanck smear
(B) Gram stain
(C) potassium hydroxide preparation
(D) Wright’s stain
(E) direct fluorescent antibody (DFA) assay
5. The best management is
(A) mupirocin ointment to the rash 3 times a day
(B) acyclovir ointment 5-6 times a day
(C) IV acyclovir for 21 days
(D) clotrimazole cream twice daily
(E) griseofulvin suspension for 10 days
6. The next child you see is a 6-month-old presenting for routine well-child care. You notice a few comedones on the child’s cheeks and upper back (Figure 17-3). The best management is
(A) tretinoin gel daily
(B) benzoyl peroxide gel daily
(C) testosterone and dehydroepiandrosterone sulfate (DHEAS) levels
(E) hydrocortisone cream daily
FIGURE 17-3. See color plates.
7. One week later this patient’s 3-year-old cousin presents with widespread erythema and scaling around the mouth, neck, and upper chest, revealing red moist skin under the scale. Rare fragile blisters are noted. He is clearly uncomfortable and hasn’t been drinking well. His lips are dry and he is febrile (Figure 17-4). He has not been on medication. The most likely diagnosis is
(A) toxic epidermal necrolysis
(B) Stevens-Johnson syndrome
(C) staphylococcal scalded skin syndrome
(D) toxic shock syndrome
(E) erythema multiforme
FIGURE 17-4. See color plates.
8. What is the best diagnostic test?
(A) culture of the blister fluid
(B) Gram stain of the blister fluid
(C) blood culture
(D) frozen section of sloughing skin
(E) viral culture from the base of the blister
9. Staphylococcal scalded skin syndrome is caused by
(A) an allergic reaction to bacteria
(C) an exfoliatoxin
(D) a pyrogenic toxin
(E) reaction to antibiotics
10. Full-thickness skin necrosis, severe mucosal involvement, and skin pain is characteristic of
(A) scarlet fever
(B) toxic epidermal necrolysis
(C) staphylococcal scalded skin syndrome
(D) bullous impetigo
(E) erythema multiforme
1. (E) The timing of this rash, the patient’s otherwise good health, and the description of the lesions are all suggestive of transient neonatal pustular melanosis. This benign neonatal eruption classically presents in the first week of life, with lesions in multiple stages including vesicles, pustules, collarettes of scale, and hyperpigmented macules. It is more common in dark-skinned infants. Smear of the contents of a pustule demonstrates neutrophils and can be diagnostic. Erythema toxicum neonatorum is another common benign neonatal eruption, but it tends to spare the palms and soles and demonstrates blotchy erythema with central minute pustules. A smear of the contents of the pustule demonstrates eosinophils. Multinucleated giant cells are seen on Tzanck smears of herpetic lesions. An infant with neonatal herpes infection may appear sick, with lethargy and poor feeding. An infant with a presentation limited to skin may be asymptomatic, however, and develop neurologic symptoms and signs later. This diagnosis, then, is an important exclusion. The lesions are often eroded. Congenital candidiasis can present as pustules but typically presents in the first 24 hours of life and is more widespread with confluentappearing lesions and scaling. Scabies can cause an intense rash in infants, but the description of pustules leaving hyperpigmented macules and rims of scale is less classic for scabies in which vesicles, crusts, and dermatitic changes may be more notable.
2. (C) Transient neonatal pustular melanosis is a benign neonatal eruption for which no treatment is necessary. New lesions cease to develop during the first week of life. The postinflammatory hyperpigmentation may linger for weeks to months. Recognition of this common neonatal rash is important to spare these infants from unnecessary procedures, such as a septic workup and unnecessary drugs. Cultures of these pustules, both bacterial and viral, are sterile.
3. (D) One month of age is a typical time to present with neonatal acne. This is a common finding in both boys and girls. The lesions typically affect the face and are characterized by erythematous papules and pustules without comedones. This is a selflimited eruption and no treatment is indicated. The dark patches that are noted refer to leftover hyperpigmentation from the transient neonatal pustulosis.
4. (B) A Gram stain will demonstrate gram-positive cocci, confirming the diagnosis of impetigo. Impetigo is a common skin infection in children, caused by both Staphylococcus aureus and group A streptococci. The presence of yellow crust and the location near an orifice are suggestive of this diagnosis. More rarely, herpes simplex can present in infants and is important to recognize and rule out. The typical lesions are grouped vesicles on a red base, without the characteristic yellow crust of impetigo. A Tzanck smear or DFA can be used to raise clinical suspicion about a herpetic lesion. Tinea corporis might also be considered. These lesions are classically more annular with scale and not crust.
5. (A) Topical treatment of impetigo with an antibacterial, such as mupirocin, is often adequate when the lesions are localized. Treatment of herpes simplex virus (HSV) in patients of this age is somewhat controversial. Infants younger than 3 months of age are treated aggressively with IV antivirals and are evaluated for central nervous system (CNS) manifestations of herpes infection. There may still be concern at 6 months of age that a local infection can disseminate or that the eruption represents reactivation of a congenital infection.
6. (B) Acneiform lesions at 6 months of age represent infantile acne, which is more common in boys. They are characterized by comedones, and likely are androgen driven. However, testosterone and DHEAS levels are typically normal and do not necessarily need to be measured unless the child demonstrates other signs of virilization. Treatment with benzoyl peroxide is often helpful. Tretinoin is generally reserved for the most recalcitrant cases. Curettage is not indicated. Hydrocortisone may make the condition worse.
7. (C) Periorificial and flexural involvement with fragile blisters, peeling skin, and moist denuded exposed skin is typical of staphylococcal scalded skin syndrome, caused by an exfoliatoxinproducing strain of S aureus phage group 2. Toxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome are most commonly drug-induced hypersensitivity reactions and mucosal involvement is prominent. Toxic shock syndrome does not cause blistering. Erythema multiforme is a hypersensitivity reaction sometimes associated with HSV and presents with targetoid lesions.
8. (D) The gold standard for diagnosis of staphylococcal scalded skin syndrome is demonstration of blister formation within the stratum granulosum of the epidermis, in contrast to TEN in which epidermis is necrotic in full thickness. Cultures from the blisters and denuded skin are sterile. A blood culture is only rarely positive. The highest yield of the inciting bacteria is from the nasopharynx or conjunctiva.
9. (C) Staphylococcal scalded skin syndrome is caused by S aureus strains producing exfoliatoxin; these strains usually belong to phage group 2. Pyrogenic toxins are implicated in scarlet fever caused by group A streptococci.
10. (B) Full-thickness skin necrosis, severe mucosal involvement, and skin pain is typical of TEN. This is usually a drug-induced hypersensitivity reaction, which is distinguished from Stevens-Johnson syndrome and erythema multiforme by the extent of surface area involvement. Ophthalmologic involvement is also common and must be sought.
Lucky AW. Transient benign cutaneous lesions in the newborn. In: Eichenfield LF, Frieden IJ, Esterly NB, eds. Textbook of Neonatal Dermatology. Philadelphia, PA: WB Saunders; 2001:88-102.
Patel GK, Finlay AY. Staphylococcal scalded skin syndrome: diagnosis and management. Am J Clin Dermatol. 2003;4(3):165-175.
CASE 18: AN 8-YEAR-OLD BOY WITH AN ITCHY RASH
An 8-year-old boy presents complaining of an itchy rash involving his whole body. His mother states that her son has been itchy and rashy “from birth.” She has treated his skin with “cortisone creams” and “ringworm creams” over the years, with only intermittent mild improvement. She admits that his itching and scratching have been worse in the last couple of weeks. She has not noticed a rash on her own skin, but her 6-month-old daughter also has an itchy rash (Figure 18-1).
On physical examination, there are excoriations over the upper back, abdomen, wrists, and lower legs. The antecubital fossae and popliteal fossae are clear. There are tiny papules on the fingers and larger erythematous papules on the scrotum. The face is clear.
SELECT THE ONE BEST ANSWER
1. Examination of the patient’s 6-month-old sister is likely to reveal
(A) red scaly patches on the cheeks
(B) linear lesions within creases on the palms and soles
(C) annular scaling plaques on the buttocks
(D) grouped vesicles on an erythematous base in the diaper area
(E) broken and missing hairs in the scalp
FIGURE 18-1. See color plates for parts A and B.
2. The patient is treated with two applications of permethrin cream and returns 1 month later without improvement. The most likely cause of treatment failure is
(A) inadequate treatment of contacts and environment
(B) inadequate duration of treatment
(C) inappropriate choice of medication
(D) organism resistance
3. The patient’s mother states that she has been also applying the cream to her baby’s rash twice a day. You inform her that the treatment
(A) is appropriate and she needs to apply the medicine 3 times a day
(B) should have been applied only once to the whole body
(C) should have been applied once a week for 2 weeks to the whole body
(D) is inappropriate and you prescribe triamcinolone ointment instead
(E) is inappropriate and you prescribe mupirocin ointment instead
4. Additional instructions for treatment should include
(A) professional extermination of the home environment
(B) shaving the head
(C) sealing all coats in plastic for 1 month
(D) applying mayonnaise to the hair and then washing it out
(E) laundering all linens and clothing and vacuuming all surfaces
5. The finding of papules/nodules on the penis and scrotum in the setting of an itchy rash such as this child presented with is
(A) irrelevant to making the diagnosis
(B) strongly suggestive of the diagnosis
(C) pathognomonic for the diagnosis
(D) a warning sign of sexual abuse
(E) a marker of a secondary bacterial infection
6. Later that day, a 6-year-old white girl presents complaining of an itchy scalp for a few weeks. Examination of the scalp and hair is most likely to reveal
(A) diffuse scaling of the scalp with scattered pustules and areas of broken hairs
(B) areas of decreased hair density with hairs of variable length
(C) multiple round patches of smooth alopecia
(D) greasy scale throughout the scalp
(E) white flecks in the hair that do not seem to come off easily
7. A common cause of treatment failure in this condition is
(A) resistant organisms
(B) failure to remove all nits
(C) incorrect use of medications
(D) A and C
(E) all of the above
8. Many schools advocate a “no nit” policy when evaluating whether students may return to school. The problem with this policy is
(A) nits represent egg sacs and never indicate active infestation
(B) it requires all children to cut their hair short
(C) nits that are less than 3 inches from the scalp are empty
(D) nits that do not contain a live organism are noninfectious
(E) nits can only be seen microscopically
9. The best place to detect body lice is
(A) under the nails
(B) by a perianal tape test
(C) in the umbilicus
(D) in the digital web spaces
(E) in the seams of clothing
10. A 2-year-old girl presents with new bumps on the skin for the last few weeks. They do not seem to itch or otherwise bother the child. On examination you notice numerous flesh-colored 2- to 3-mm smooth papules, some with a central dell, clustered behind the knee and scattered on the thigh, groin, and trunk (Figure 18-2). You inform the patient’s mother that
(A) the patient has chickenpox and must be kept out of school
(B) this is an allergic contact reaction and you prescribe topical hydrocortisone
(C) the house requires fumigation by an exterminator service
(D) this is a poxvirus infection and there is no associated systemic involvement
(E) this is a papilloma virus infection for which the patient should be immunized
11. Appropriate treatment for this eruption includes
(A) watchful waiting
(B) calamine lotion
(C) triamcinolone ointment
(D) salicylic acid solution
FIGURE 18-2. See color plates.
12. At this same visit, the patient’s 12-year-old brother shows you some firm rough papules on his fingers, which he states have bled when he picks at them (Figure 18-3). On examination, these papules have a rough surface studded by pinpoint black dots. The most likely diagnosis is
(C) knuckle pads
(D) foreign body reaction
(E) molluscum contagiosum
FIGURE 18-3. See color plates.
13. The treatment of choice for this condition is
(B) surgical excision
14. Soft flesh-colored coalescent papules in the perianal area on this patient suggest
(A) the need for a child abuse evaluation
(B) the patient is constipated and needs to increase fiber in his diet
(C) autoinoculation of human papillomavirus
(D) A and C
(E) all of the above
15. A 9-year-old boy presents to the emergency department with a 2-day history of blisters erupting on his lower legs (Figure 18-4). He complains that his legs are itchy and somewhat sore, but he otherwise feels well and is afebrile with normal vital signs. You instruct the family
(A) to have the family dog checked for fleas
(B) to unroof the blisters and apply antifungal cream
(C) that the child needs admission for IV antibiotics
(D) that the child will be admitted to the burn unit and child protective services will be called
(E) to burn the weeds in their garden
FIGURE 18-4. See color plates.
1. (B) Infants infested with the scabies mite often manifest a very extensive rash with involvement of the palms and soles. Burrows can often be found within the deep creases of these surfaces. The head can also be involved in the eruption, which is less common in older individuals, but a prominent facial rash is unusual. Annular lesions are more typical of a dermatophyte infection. Grouped vesicles on an erythematous base constitute the classic description of a herpetic lesion. Broken hairs in the scalp may suggest a tinea capitis infection.
2. (A) The most common cause of treatment failure of scabies infestations is inadequate treatment of contacts and the environment. All individuals sharing living quarters should be treated at the same time. Treatment involves application of 5% permethrin cream from the neck to the toes, including digit web spaces, gluteal cleft, genitalia, around and under nails. Cream should be left on overnight. Symptomatic individuals should repeat this treatment 1 week later. Simultaneously, the environment should be treated: all linens and clothing must be laundered in hot water and put through the dryer; items that cannot be laundered should be put in plastic for 1 week; floors, rugs, and furniture should be vacuumed. Permethrin-resistant scabies mites have not been reported.
3. (C) Appropriate use of 5% permethrin cream is a single application overnight, with repeat application in 1 week if the individual is symptomatic. This regimen applies to infants as well. The medication should be applied to the scalp of infants. Daily application is inappropriate and may lead to systemic absorption of the medication.
4. (E) Additional instructions for the environment are discussed in the answer to question 2. Professional extermination is not indicated. Items that cannot be laundered need to be sealed in plastic for 1 week. Application of mayonnaise to the hair is a treatment that has been recommended for head lice. There is no need to shave the head.
5. (B) Scrotal and penile nodules are strongly suggestive of a scabies infestation. Other itchy conditions, such as atopic dermatitis, rarely cause papules or nodules in this area. Conditions such as psoriasis and lichen planus can commonly affect the genitalia, but lesions are not typically nodular. Verrucous papules and nodules in the genital region may be a sign of sexual abuse.
6. (E) Head lice is common in school-age children and more common among members of races with straighter hair. They are relatively uncommon in those with coarse kinky hair. It is theorized that the organism cannot attach as easily to the oval hair shafts of kinky hair. Diffuse scaling in the setting of pustules and broken hairs is more suggestive of tinea capitis, and this infection is more common among African Americans. Round patches of frank alopecia are seen in alopecia areata, and this condition is not usually itchy. Diffuse greasy scale is typical of seborrheic dermatitis and more common in adolescents and adults. Decreased hair density with hairs of variable length are the findings of trichotillomania.
7. (D) Treatment failure of head lice is common. Pyrethrin-resistant organisms are becoming increasingly common. Additionally, suboptimal use of recommended treatments is common. The nonprescription cream rinse products are more effective when applied to dry hair and need to be left on the hair for several hours. Finally, removal of intact nits is critical because these represent the unhatched eggs. However, many of the apparent nits are typically empty and so there is a concern that “no nit” policies are overly conservative (see answer to number 8).
8. (D) The “no nit” policy is controversial. In some instances, old nits may simply represent the eggshell, without a live organism. Therefore, some patients with old nonviable nits will be barred from school, although they are in fact no longer infectious. It is thought that those nits closest to the scalp are most viable because of the necessary body temperature for hatching; however, this remains unproven and should not be relied on. Nits can be seen on hair shafts with the naked eye, but determination of the presence of an egg within requires microscopic examination.
9. (E) Body lice are rarely spotted on the skin itself but rather are visible to the naked eye within the seams of clothing. The skin lesions consist only of excoriations and areas of pinpoint bleeding representing sites of bites. Body lice most commonly affect the homeless and those with poor hygiene practices. Treatment consists mostly of removing infested articles of clothing and bedding. The perianal tape test is useful for documenting the presence of pinworms.
10. (D) Molluscum contagiosum is a poxvirus infection that is becoming increasingly prevalent among children. It is believed to be transmitted by skin-to-skin contact; however, it is unclear whether fomites are a risk and how much of a role is played by swimming and bathing with affected individuals. The lesions are classically found clustered in warm, moist areas such as the axillae, groin, antecubital fossae, and popliteal fossae. Patients may have few or dozens of lesions. Those with underlying skin disease such as atopic dermatitis have a higher risk of spreading the lesions because of a compromised skin barrier and baseline scratching.
11. (A) Watchful waiting is an acceptable treatment option in uncomplicated cases. The lesions do tend to spontaneously resolve eventually, although the time course is variable from weeks to months to years. Alternative treatments include curettage, cryotherapy, and application of cantharidin or a similar destructive agent. Salicylic acid is useful in the treatment of warts; however, it likely will not be effective for this condition and will be irritating. There is not a vaccine available.
12. (B) Verruca vulgaris refers to the common type of wart, caused by human papillomavirus. This infection is very common among children and adults. A large percentage of childhood cases actually resolve spontaneously over months to years. Lesions are distinguished by the rough surface that disrupts skin markings and the presence of thrombosed capillaries, which account for the friability and bleeding that are often reported. Callus will always be in an area of friction and pressure and will not disrupt the skin lines or produce thrombosed capillaries. Knuckle pads are an uncommon finding on the dorsal aspect of some patients’ interphalangeal and metacarpal phalangeal joints.
13. (A) Of the choices listed, cryotherapy is the best choice for wart therapy. Surgical excision will lead to scarring, and commonly the wart will grow back at the site because of incomplete removal. Electrocautery is also inappropriate. Curettage will not be effective for the relatively deep lesions. Vaccination is now available against human papillomavirus types 6, 11, 16, and 18. However common warts are generally caused by other serotypes and probably won’t be prevented by the current vaccines.
14. (D) Soft perianal papules in this setting are likely condylomas. Condylomas in any child should raise the concern for child abuse. However, there are many cases in which no risks for abuse are found and it is believed that autoinoculation of the virus by the patient is possible in this location. Additionally, children in diapers may be at risk of acquiring a papillomavirus from the hands of caregivers. Hemorrhoids are quite rare in childhood.
15. (A) Bullous arthropod bites can be very exuberant and frightening. They are often due to the bites of fleas, and only one member of the family may be affected. This individual is hypersensitive to the bite. The blisters arise on otherwise normalappearing skin, and a punctum may be visualized centrally. The lesions occur on exposed skin predominantly, such as the lower legs and arms. Children who play on the floor or ground are particularly susceptible. Management is supportive. Blisters may be drained, but the roof should be left intact as a natural dressing. Unusual blistering reactions in unusual locations should raise suspicion for abuse. Poison ivy reactions tend to cause more underlying dermatitis instead of the pristine blisters seen here. It is also not recommended to burn poison ivy because of the risk of aerosolizing the allergenic oils.
Bodemer C. Human papillomavirus. In: Schachner LA, Hansen RC, eds. Pediatric Dermatology. 3rd ed. Edinburgh, United Kingdom: Mosby; 2003:1087-1092.
Huynh TH, Norman RA. Scabies and pediculosis. Dermatol Clin. 2004;22(1):7-11.
CASE 19: A 4-YEAR-OLD GIRL WITH AN ITCHY RASH
A 4-year-old girl presents to your office with her mother complaining of a long-standing itchy rash that has worsened in the last several days. The child’s mother states that the child has had rough skin since infancy and scratches persistently. She appears exhausted and exasperated. She describes the child digging at her skin and causing open sores and bleeding. In the past week, these symptoms have worsened, and the mother notes that whenever the weather changes the rash worsens.
On examination, the child is thin, notably picking and scratching at her arms and legs. She is quiet and withdrawn. There are widespread ill-defined plaques of dry, excoriated, and thickened skin with scale over the extremities predominantly, with less thickened patches on the trunk. There are areas of fissuring and erosion, and crusty exudates, particularly on the legs and near the elbows. In the folds of the elbow and knee, there are deeper erosions revealing red raw skin, also some clustered vesicles (see Figure 19-1). There is widespread lymphadenopathy.
FIGURE 19-1. See color plates.
SELECT THE ONE BEST ANSWER
1. Appropriate care of this patient will include
(A) administration of oral corticosteroids
(B) application of topical antibacterials
(C) application of topical antihistamines
(D) administration of oral antibiotics
(E) limitation of bathing to once weekly with a 30-minute soak
2. The finding of clustered vesicles also raises concern for
(A) chickenpox infection
(B) sexual abuse
(C) allergic contact dermatitis
(D) hand, foot, and mouth disease
(E) eczema herpeticum
3. The most helpful diagnostic test to evaluate the vesicle would be
(A) patch testing
(B) bacterial culture
(C) viral culture
(D) direct fluorescent antibody testing
(E) scraping and staining with KOH
4. Initial topical therapy for this patient should include
(A) mid-potency topical corticosteroid ointment under wet wraps
(B) topical antihistamine cream
(C) topical calcineurin inhibitor cream
(D) high-potency topical corticosteroid cream
(E) wet to dry dressings
5. Skin care recommendations in this setting should include
(A) regular long hot soaks in a bathtub
(B) daily short baths in tepid water
(C) regular use of antibacterial soaps
(D) avoidance of topical lubricants
(E) limitation of bathing to once weekly with a 30-minute soak
6. The least well-established trigger of flares of this nature is
(A) secondhand cigarette smoke
(C) milk protein
(D) animal dander
7. This patient’s 8-year-old brother is also complaining of an itchy rash on his belly and arms that has been present for months. On examination, you notice an ill-defined plaque of excoriated and hyperpigmented papules infraumbilically (Figure 19-2A) and fleshcolored papules over his extensor arms and legs (Figure 19-2B). You recommend that he
(A) keep his shirt tucked in at all times
(B) avoid skin contact with the metal button on his jeans and his belt buckle
(C) follow the same skin care recommendations you gave his sister
(D) be treated for scabies
(E) take griseofulvin by mouth for 2 months
8. The most common contact allergen in the United States is
(A) laundry detergent
(B) fragrance mix
9. A 5-year-old girl presents to your office with a 1-week history of red scaly 1- to 3-cm plaques predominantly over her trunk and extremities. She states she has otherwise been feeling well, but her mother notes a bit more fatigue than usual. You note that the patient is afebrile, but her tongue and oropharynx are erythematous and the rash is randomly distributed on the trunk (Figure 19-3). You immediately suspect a diagnosis of
(A) pityriasis rosea
(B) guttate psoriasis
(C) scarlet fever
(E) toxic shock syndrome
FIGURE 19-2. See color plates.
10. The best test to do is
(A) a throat culture
(B) a monospot test
(C) a skin biopsy
(D) scraping and staining with potassium hydroxide
(E) an antinuclear antibody (ANA)
FIGURE 19-3. See color plates.
11. You tell the family to expect
(A) the rash will resolve in a week followed by widespread desquamation
(B) the rash will resolve in 6-8 weeks with postinflammatory dyspigmentation
(C) the rash will improve with treatment but may persist to some degree for life
(D) the patient will have to discontinue all contact sports
(E) sun protection is paramount
12. A 9-month-old infant presents with a worsening rash in the preceding month. Her mother states that the child is quite irritable and is having looser stools. She has been applying hydrocortisone with minimal improvement. On examination, there are erythematous scaling and eroded plaques on the cheeks and around the mouth, also on the lower abdomen, in the diaper area, and over the hands and feet. A helpful piece of history concerns
(A) whether there has been any change in diet
(B) whether there are new pets in the household
(C) whether there are any sick contacts
(D) whether the child is in day care
(E) whether the family is using a new laundry detergent
1. (D) The patient described is presenting with an acute flare of severe atopic dermatitis. The finding of crusting exudates and erosions is strongly suggestive of secondary bacterial infection. Additionally it is known that patients with chronic atopic dermatitis are frequently colonized by bacteria such as S aureus, and it is thought that the presence of the organism may drive the inflammatory reaction in the skin. Systemically administered antibiotics are much more effective for decreasing the overall carriage rate of the bacteria and treating the secondary infection. Systemic corticosteroids are rarely indicated in the management of atopic dermatitis and should not be considered first-line treatment. Topical antihistamines are often sensitizing, leading to allergic contact dermatitis, especially in patients with a defective skin barrier; therefore, topical agents are not recommended in this setting. Additionally, systemic absorption of these agents when applied to large surface areas in young children, especially those with a compromised skin barrier, can lead to toxic levels. Bathing recommendations are controversial, but daily short baths with appropriate skin care following can be therapeutic.
2. (E) Eczema herpeticum refers to a generalized eruption of herpes simplex virus infection in a patient with a compromised skin barrier, such as during a flare of atopic dermatitis. A history of cold sores within the family may be suggestive. The finding of clustered round punched-out erosions and vesicles in the setting of atopic dermatitis is also suggestive of this potentially severe secondary infection. It is uncommon to see an active case of chickenpox in this setting. An acute allergic contact dermatitis can be exuberant and present with vesicles but typically will affect a limited surface area with relatively well-demarcated borders or follow geographic patterns, such as the linear streaks from poison ivy. Hand, foot, and mouth disease typically is associated with small shallow erosions on the hands, feet, and oropharynx. Sexual abuse is not the primary concern in this setting as the acquisition of HSV is extraordinarily prevalent.
3. (D) The direct fluorescent antibody tests for herpes viruses can be accomplished very quickly and provide guidance for treatment of possible cases of eczema herpeticum. The most reliable specimen is taken from the base of an intact vesicle. The vesicle should be gently unroofed, and the base then rubbed with a cotton applicator and transferred to a microscope slide. Patch testing is done to determine sensitivity to contact allergens. Bacterial and viral cultures may also be helpful in this setting but will not provide as rapid results. Potassium hydroxide preps are useful to confirm suspected tinea infections.
4. (A) Appropriate care of a patient with a widespread flare of atopic dermatitis involves very specific instructions to the family regarding skin care. The mainstay of therapy will be the use of a topical corticosteroid preparation. These agents have a long history of safety and efficacy in this setting. Choice of an appropriate-strength agent is critical. The age of the patient, extent of surface area to be covered, and sites of application will all help determine the most appropriate potency. High-potency agents are only rarely used in children, and when used are most often used only on hands or feet and for very limited periods of time. Mid-potency agents used under occlusion with warm wet linens accomplishes hydration as well as healing. Ointment-based products provide more occlusive and emollient effects than creams and lotions, and thus they are more effective in the setting of acute flares. Topical antihistamines, as mentioned previously, may cause sensitization. The newest agents in the armamentarium against atopic dermatitis are the topical calcineurin inhibitors. These agents are anti-inflammatory in the skin and seem to cause minimal systemic absorption. They do not cause cutaneous atrophy. However, they may not be as effective as topical steroids in the setting of an acute flare. Additionally, the risks of long-term use are still unknown. Wet to dry dressings do not have a role in this setting.
5. (B) Bathing in the management of atopic dermatitis has long been controversial. It is generally recognized that long soaks (>15 minutes) are detrimental to the barrier function of the skin, perhaps by compromising the lipid component of the stratum corneum. However, short baths (5 minutes) serve to hydrate the skin and are beneficial. The use of topical lubricants is also critical in the maintenance of a healthy skin barrier, and application of these agents immediately after bathing seems to improve their penetration and efficacy. Overuse of antibacterial agents may lead to drug resistance and so are not recommended for daily use.
6. (C) In most cases of atopic dermatitis, a single allergen is not the cause of the condition. Allergy testing in these individuals frequently finds sensitivity to many agents, only some or none of which may have any clinical relevance to the individual patient. Specific food allergies have been the hardest allergens to prove as the etiology of atopic dermatitis. Environmental agents such as dust, smoke, fragrance, and dander are more often positive.
7. (B) This patient’s presentation is classic for nickel contact allergy with an associated hypersensitivity reaction. These patients are often atopic or have an atopic family history. They constantly or recurrently have an active site of chronic dermatitis in the umbilical region, probably from contact with the metal buttons on many clothes, or the use of belts with metal buckles. The eruption on the extremities is probably secondary and the result of a more systemic sensitization to the local allergen. The eruption itself responds rather slowly to fairly potent topical corticosteroids, but of paramount importance is the counseling to avoid nickel metal contact. Attempting to keep a shirt tucked in as a barrier is usually inadequate. The use of nail polish lacquer on offending surfaces can be helpful. Oral antifungal medication has no benefit in this situation.
8. (C) Contact allergy to nickel metal is the most common contact allergy in the United States. This allergy likely plays a significant role in the dermatitis of many atopics. When there is a localized eruption in the periumbilical region, this allergen should be strongly suspected. Other sites commonly affected are earlobes, neck, and wrist. A fragrance mix and neomycin are also common allergens for contact allergy. Laundry detergents are often suspected, but if and when they are the true offenders it is probably because of the fragrance component. Peanut is a common systemic allergen.
9. (B) An acute onset of red scaly plaques could be attributed to pityriasis rosea or psoriasis. However, pityriasis rosea is rarely as red in color as psoriasis, and classically there is a first larger lesion about 2 weeks before the onset of the generalized rash. Additionally the lesions are typically distributed along skin tension lines, generating the classically described “fir tree” pattern. Guttate psoriasis-flares in pediatric patients are often in response to a strep pharyngitis. The lesions are small well-defined red plaques with the typical adherent scale of psoriasis. There may be other stigmata of psoriasis, such as a geographic tongue or nail changes. Scarlet fever is a widespread erythematous eruption of fine papules, without a plaque component. Mononucleosis rarely presents with a rash, and when it does it is the more nonspecific morbilliform eruption of a viral exanthem. Toxic shock syndrome presents with the patient in shock. The skin is confluently red, like a sunburn.
10. (A) It is important to look for the presence of streptococcal pharyngitis in the setting of guttate psoriasis. Treatment of the infection is often helpful in clearing the rash. A skin biopsy can be useful if the morphology of the rash makes the diagnosis less certain. A KOH prep is likely unnecessary, unless a diagnosis of tinea corporis is strongly suspected. An ANA is not necessary or helpful.
11. (C) Guttate psoriasis typically goes into remission with use of topical corticosteroids and occasionally the need for a limited course of phototherapy. Even careful sun exposure can be therapeutic, but patients must be cautioned not to get sunburned. These patients are at increased risk for the development of psoriasis vulgaris later in life. Pityriasis rosea generally takes 6-8 weeks to resolve and leaves postinflammatory changes for months. Scarlet fever fades in days, followed by significant desquamation. Limitations of physical activity are recommended in the setting of mononucleosis when splenomegaly is present.
12. (A) The presentation of dermatitis, irritability, and diarrhea is strongly suggestive of acrodermatitis enteropathica. A classic time for this condition to present is when the child is weaned from breast milk. One of the causes of the associated zincdeficient state seems to be a defect in absorption of zinc from the small intestine, perhaps because of a missing or malfunctioning transporter. The zinc in breast milk appears to be more bioavailable, and therefore the condition may be masked until this source of zinc is absent. Figures 19-4 and 19-5 show examples of another child with zinc deficiency.
FIGURE 19-4. See color plates.
FIGURE 19-5. See color plates.
Hansen RC. Atopic dermatitis: taming “the itch that rashes.” Contemp Pediatr. 2003;20(7):79-87.
Hogan PA. Papulosquamous disease. In: Schachner LA, Hansen RC. eds. Pediatric Dermatology. 3rd ed. Edinburgh, United Kingdom: Mosby; 2003:643-656.
Silverberg NB, Licht J, Friedler S, et al. Nickel contact hypersensitivity in children. Pediatr Dermatol. 2002;19(2):110-113.
CASE 20: AN 8-YEAR-OLD GIRL WITH HAIR LOSS
An 8-year-old white girl presents to your office reporting a 2-month history of hair loss and breakage, accompanied by itching and flaking in the scalp. Her mother notes that there have been rashes that have come and gone repeatedly on the skin of the arms and upper back as well. These rashes have improved with topical antifungal creams but continue to recur. Application of the antifungal cream to the scalp has not provided any relief. The child is otherwise healthy. No family members have been affected with similar rashes. The family has a dog and a cat at home. The child participates in a gymnastics school.
On physical examination, the child appears well and in no distress. On the crown of the scalp there is an area of hair loss about 1-2 cm in diameter, with hairs broken off at the scalp and scaling. There are several pustules in the region and a tender erythematous nodule. There are two palpable occipital lymph nodes that are nontender and nonfluctuant. On the upper back are ill-defined, somewhat faint erythematous plaques with minimal scale.
SELECT THE ONE BEST ANSWER
1. The most appropriate treatment for this patient is
(A) mupirocin ointment twice daily
(B) clindamycin suspension 3 times a day
(C) cephalexin suspension 3 times a day
(D) ketoconazole shampoo daily
(E) griseofulvin suspension twice daily
2. Duration of treatment should be
(A) 1 month
(B) 2 months
(C) 3 months
(D) 2 weeks
(E) until the hair is regrown
3. The most suggestive risk factor for this condition in this patient is
(A) presence of a family cat and dog
(B) past use of hair permanents
(C) participation in gymnastics school
(D) the patient’s ethnic background
(E) wearing the hair in a ponytail daily
4. Failure of past treatments has likely been a result of
(B) organism resistance
(D) endothrix infection
(E) failure to cut the hair short
5. Tinea capitis infections are most common in
(B) African Americans
6. A helpful diagnostic test in this patient would be
(A) Wood lamp examination of the scalp
(B) Tzanck smear
(C) hair mount
(D) fungal culture
(E) hair pull test
7. One year later, the patient returns, again complaining of hair loss. She states that “a clump of hair fell out 2 weeks ago.” She denies any flaking, itching, or soreness within the scalp. She has otherwise been feeling well, but she and her mother are extremely anxious about this new development. On examination, there is a quarter-size round patch of hair loss in the right frontal scalp. The skin in the area is smooth and devoid of all hairs. Hairs are easily pulled out at the periphery of the patch. There is no lymphadenopathy (Figure 20-1). The most likely diagnosis is
(A) tinea capitis
(C) alopecia areata
(D) telogen effluvium
(E) androgenetic alopecia
8. The family asks if this condition is caused by stress. The most appropriate reply is
(D) yes, and antidepressants are indicated for therapy
(E) no, but the patient must stop straightening her hair
9. A diagnostic sign to look for to help confirm the diagnosis is
(A) exclamation point hairs
(B) question mark hairs
(D) bubble hair
(E) hair casts
10. The best form of treatment to recommend at this stage is
(A) intralesional injections of corticosteroid
(B) topical application of class 1 corticosteroid
(D) hair transplants
(E) topical application of a calcineurin inhibitor
11. Which of the following tests should be considered in this patient?
(B) ferritin level
(C) thyroid function test
(D) ANA test
(E) glucose tolerance test
12. A 10-year-old girl presents with her parents for evaluation of hair loss. The child seems unconcerned. Her parents state that they have noticed an area on the top of the scalp where the hair seems thin and the scalp appears dirty. They have noticed these changes gradually. The child is otherwise healthy and takes no medications.
On examination, there is a widening of the part with decreased hair density and a “spangled” appearance of the hairs in this area. The hairs appear to be of varying length and the hair feels coarse in this area. The scalp demonstrates brownish fine scaling. No hairs are obtained on a gentle pull test. There are no papules or pustules and no lymphadenopathy (Figure 20-2). The eyelashes are present but also appear to be of varying lengths. The nails are short and ragged.
What question should be asked?
(A) Do you perm your hair?
(B) Do you color your hair?
(C) Do you use a blow dryer?
(D) Do you pull or twirl your hair?
(E) Do you use a chemical straightener on your hair?
13. Important workup includes
(B) thyroid function tests
(C) ferritin level
(D) none of the above
(E) all of the above
14. Successful treatment may involve
(A) discontinuing all processing practices
(B) styling the hair in looser styles
(C) behavioral modification techniques
(D) topical corticosteroids
(E) topical antifungal cream
15. Additional treatment options may include
(A) selective serotonin reuptake inhibitors (SSRIs)
(B) intralesional corticosteroid injections
(C) permethrin-containing cream rinse
(E) oral antifungal medication
16. A 16-year-old girl presents complaining that her hair is thinning. She notices that her ponytail is smaller than previously and that she sees large amounts of hair in the drain and on her pillow.
Upon examination, there are no bald patches on her scalp, the scalp appears normal without erythema or scale, and the amount of hair seems within normal limits. However, 20-30 hairs are easily pulled out. Instruct the patient
(A) it is normal to lose up to 250 hairs a day
(B) to collect the hair she is losing at home and to bring it back for evaluation
(C) she should decrease her frequency of hair washing to once a week
(D) this is early-onset “female pattern” hair loss
(E) to stop feeling stressed
17. An important blood test to obtain in an otherwise asymptomatic individual is
(A) thyroid-stimulating hormone
(C) ferritin level
(D) erythrocyte sedimentation rate
(E) C-reactive protein level
18. Ask the patient if she takes any medications. The most significant medication that she reports is
(A) multivitamin pill
(C) estrogen and progestin
1. (E) The case is most suggestive of a tinea capitis infection. Such infections are caused by dermatophytes, which are often spread from person to person, possibly via fomites. It is not uncommon to see lesions of tinea corporis in the setting of tinea capitis. The organism most often isolated in cases of tinea capitis in the United States is Trichophyton tonsurans. First-line treatment is generally with oral griseofulvin. Terbinafine is also approved for this indication in children 4 years and older. Topical therapies cannot penetrate the hair shafts where the organism is found. Secondary bacterial infection is occasionally present and is treated with oral antibiotics when significant. Patients should be educated regarding the transmission and infectivity of this condition, emphasizing the importance of not sharing hair implements, hats, pillows, and so on. All affected individuals in a family should be treated simultaneously to avoid reinfection.
2. (B) The optimal length of treatment of tinea capitis with griseofulvin is 6-8 weeks. Optimal duration of treatment with the newer antifungal agents has not been well documented.
3. (C) Tinea capitis in the United States is generally an anthropophilic infection. This organism is preferentially pathogenic for humans and is therefore passed from human to human, rather than from animal to human (zoophilic) or from soil to human (geophilic).
4. (D) Tinea capitis due to T tonsurans is an endothrix infection. In other words, the hair shaft itself is invaded by the fungus. Some element of the hair follicle is affected in all forms of tinea capitis, and it is for this reason that systemic therapy is necessary for clearance. Topical agents cannot penetrate the hair follicle and shaft adequately.
5. (B) Data have shown that tinea capitis infection is more common in African American children than in other ethnic groups in the United States, although it is a worldwide problem affecting all children. One theory to explain this observation is that the shape of the hair shaft in African Americans is such that invasion by the fungus is facilitated. Hair care practices such as styling, frequency of washing, and use of greases have also been the subject of speculation to explain the increasing risk of this infection. Postpubertal individuals appear to be at less risk, possibly because of the antifungal properties of sebum.
6. (D) Fungal culture is the gold standard for the documentation of tinea capitis. KOH preparations can be helpful; however, many of these infections are within the hair shaft and may be difficult to visualize, especially if only scale is obtained. Microsporum canis is another dermatophyte that may be the cause of tinea capitis, but it is a relatively rare cause in the United States. This organism causes an ectothrix infection (invasion remains outside of the hair shaft) and this organism fluoresces under the Wood lamp. Therefore, positive fluorescence can be helpful, but a negative test will not rule out a T tonsurans infection. Tzanck smears are sometimes performed to look for herpes virus infections. Hair pull tests are performed to evaluate cases of global hair loss and to examine the hair shaft microscopically.
7. (C) Sudden onset of a discrete area of frank alopecia is most suggestive of alopecia areata. This autoimmune condition is relatively common and can occur at any age. The most common presentation is of round patches of alopecia throughout the scalp. There are generally no associated symptoms and the scalp appears healthy and nonscarred. The finding of surrounding hairs that are easily pulled out suggests the process is still active and the patch may continue to enlarge. Progression to loss of the full scalp hair (alopecia totalis) or loss of all body hair (alopecia universalis) is rare. However the condition tends to wax and wane with new patches occurring periodically. Androgenetic alopecia (male and female pattern hair loss) rarely occurs at such a young age and generally presents as a receding frontal hairline or a widening of the part and thinning over the crown.
8. (C) It is unclear how significant stress is in the activity of this condition. Affected individuals do report flares during periods of stress. This is generally one of the most difficult variables to control, however so, it is usually not very helpful to the patient to focus on this factor. There is not generally a role for antidepressants in children with alopecia areata. Hair care practices are not thought to be the cause of alopecia areata, although traumatic practices can additionally weaken residual hair, leading to easy breakage and the impression of additional hair loss.
9. (A) Exclamation point hairs are short hairs found at the periphery of the areas of alopecia that are very narrow at their base and wider at the distal end. It is thought that these changes may be the effect of the dense perifollicular lymphocytic infiltrate that is observed microscopically on biopsies from active areas of alopecia areata. Question mark hairs do not exist. Trichoschisis refers to hairs that are split because of trauma, and bubble hair refers to hair shafts that develop bubbles as the result of trauma from heat (blow dryers, curling irons). Hair casts are bits of keratin that adhere to hair shafts and can be mistaken for the nits of a lice infestation.
10. (B) Alopecia areata is a waxing and waning condition that may improve spontaneously; therefore, the direct effect of treatment is hard to document. Likewise then, observation is an acceptable option. Intralesional administration of corticosteroids has been very effective for some individuals and may work when the areas involved are limited in size and extent. However, most young children do not react favorably to this option. Potent topical steroids have been effective for some people and are more acceptable to children, especially early in the course of the disease. Calcineurin inhibitors have not shown to be effective for this condition.
11. (C) It is believed that autoimmune conditions tend to cluster in families and individuals. Therefore, in the setting of alopecia areata, it is important to consider the possibility of coexistent autoimmune diseases. Thyroid function tests are often ordered because this is such a common autoimmune disease. An ANA is not recommended as a screening test in this setting. Iron deficiency has been associated with global hair thinning but is not likely a factor in alopecia areata. A CBC is not necessary for screening unless other symptoms are present. A glucose tolerance test is not indicated unless other findings are present to suggest diabetes.
12. (D) The findings are most suggestive of trichotillomania. One is obligated to ask the patient and her parents about any habits involving hair pulling or twisting, although very often no one will admit to having observed this behavior. The hair manipulation may be occurring in private, or during sleep, so very often the family is truly unaware of it. The patient often is not fully cognizant of what is occurring. It often takes multiple visits to convince families of this difficult to accept diagnosis.
13. (D) No further workup is indicated when the findings are diagnostic.
14. (C) The most successful management of trichotillomania involves behavior modification techniques, which are probably most effective in conjunction with a therapist. There are self-help books written for children to help them to break this habit if they are motivated and have the insight to recognize the problem. The condition is classified as an obsessive-compulsive disorder.
15. (A) SSRIs have been used in the management of trichotillomania, but most authors suggest that this is most successful in conjunction with behavior modification techniques. Treatment is similar to other obsessive-compulsive disorders, and patients may have periods of improvement and periods of regression. Intralesional corticosteroid injections are a treatment for alopecia areata. Permethrin cream rinses are used in the treatment of head lice. Ivermectin has been advocated for the treatment of scabies in some settings.
16. (B) The patient is describing a telogen effluvium: a sudden loss of more telogen hairs than is typical. It is normal to lose up to 100 telogen hairs daily. Telogen effluvium can occur for numerous reasons, including following a significant illness, surgery, postpartum, following a significant psychological stress, such as a death in the family, secondary to medications, in the setting of lupus or thyroid disease, as a result of iron deficiency, or in the setting of nutritional deficiency resulting from erratic dieting. It is sometimes difficult for a clinician to appreciate the degree of hair loss that concerns the patient. Gentle hair pull tests in the office can be helpful. Additionally, asking patients to collect the hair lost in the normal course of hair styling can provide objective evidence of the degree of loss.
17. (C) Ferritin levels may be low in women who otherwise have a normal hemoglobin level. It has been observed that ferritin levels less than 40, although often reported by labs as normal, may still have an effect on hair shedding, and therefore iron supplementation may be indicated. Some authors advocate screening thyroid studies and ANA for all patients with hair loss, but unless the patient is additionally symptomatic it is unclear what one would do with an abnormal value in this setting.
18. (C) Birth control pills are well-known causes of hair loss, and often this is a temporary phenomenon and does not indicate changing the type of birth control pill until the condition has been followed for about 6 months. Other common medications causing hair loss are beta-blockers, angiotensin-converting enzyme (ACE) inhibitors, some anticonvulsants, lithium, and retinoids.
Friedlander SF. Fungal infections. In: Schachner LA, Hansen RC, eds. Pediatric Dermatology. 3rd ed. Edinburgh, United Kingdom: Mosby; 2003:1093-1100.
Harrison S, Sinclair RL. Optimal management of hair loss (alopecia) in children. Am J Clin Dermatol. 2003;4(11):757-770.
Norris D. Alopecia areata: current state of knowledge. J Am Acad Dermatol. 2004;51(1 suppl):S16-17.
Tay YK, Levy ML, Metry DW. Trichotillomania in childhood: case series and review. Pediatrics. 2004;113(5):e494-498.
CASE 21: A 6-MONTH-OLD BOY WITH BIRTHMARKS
A 6-month-old Hispanic boy presents for routine child care. His parents report no concerns, but do note that they are becoming more aware of birthmarks on the child’s skin. They feel that the spots were present at birth but are getting larger and perhaps more numerous. They believe that there is no associated symptomatology.
On examination, the child is well appearing and vigorous, but not able to sit independently. Over the trunk and extremities there are about 8 tan-brown welldemarcated patches measuring 5-10 mm in diameter (Figure 21-1).
FIGURE 21-1. See color plates.
1. This patient is most likely at increased risk for
(B) optic glioma
(C) retinal phakomas
(D) periungual fibromas
(E) basal cell carcinoma
2. Multiple café-au-lait macules may be seen in all of the following except
(A) Bloom syndrome
(C) McCune-Albright syndrome
(D) Sturge-Weber syndrome
(E) Turner syndrome
3. Further skin evaluation of this patient is most likely to reveal
(A) axillary freckling
(B) a Shagreen patch
(C) ash leaf spots
(D) periungual fibromas
(E) mucosal lentigines
4. Additional workup at this stage should include
(A) renal ultrasound
(B) head MRI
(C) cutaneous examination of family members
(E) skin biopsy
5. Additional diagnostic criteria might be identified by a consultative visit to
(A) an ophthalmologist
(B) a nephrologist
(C) a cardiologist
(D) a gastroenterologist
(E) a podiatrist
6. Examination of older patients with this disorder often reveals scattered soft flesh-colored papules (Figure 21-2). This finding most likely represents
(B) epidermal cysts
(E) skin tags
7. The patient’s mother reports that her mother had similar skin changes and died of a tumor. The most likely malignancy she had was
(A) malignant neurofibroma
(B) basal cell carcinoma
(E) malignant plexiform neurofibroma
FIGURE 21-2. See color plates.
8. Another 6-month-old Hispanic boy presents for well-child care. His parents note that they have become increasingly aware of light patches of skin. They are unsure whether they were present at birth because the child had much fairer skin at that time. Examination reveals six hypopigmented oval patches on the trunk and extremities measuring 1-5 cm in diameter (Figure 21-3). The presence of three hypopigmented macules in infancy is
(A) a diagnostic criterion of tuberous sclerosis
(B) common in the general population
(C) a risk factor for the development of vitiligo
(D) typical of Klippel-Trenaunay syndrome
(E) a marker of photosensitivity
FIGURE 21-3. See color plates.
9. The mutated gene associated with tuberous sclerosus is
(E) retinoblastoma 1 (RB1)
10. The following skin lesion of tuberous sclerosus is usually present at birth
(B) Shagreen patch
(C) confetti macules
(D) periungual fibroma
(E) none of the above
11. The following lesion is considered pathognomonic of tuberous sclerosus
(A) periungual fibroma
(B) forehead fibrous plaque
(C) molluscum fibrosum pendulum
(D) Shagreen patch
(E) confetti spots
12. The most common early seizure type observed in tuberous sclerosis is
(B) infantile spasm
13. The mutated gene of tuberous sclerosus normally functions as
(A) a tumor suppressor
(B) epidermal growth factor
(C) gap junction protein
(D) cell cycle inhibitor
(E) apoptosis initiator
14. The cardiac lesion most closely associated with tuberous sclerosus is
(A) coarctation of the aorta
(B) patent ductus arteriosus
(D) congenital heart block
(E) tetralogy of Fallot
15. An 11-year-old boy with reddish shiny papules of the face, seizures, mental retardation, and newly noted hypertension should be evaluated for
(B) renal artery stenosis
(D) renal cyst
(E) diabetes mellitus
16. Cortical tubers associated with tuberous sclerosis
(A) are lesions of bone
(B) are seen on X-ray
(C) are astrocytomas
(D) have malignant potential
(E) may correlate with the occurrence of seizures and mental retardation
17. A 9-month-old girl presents for routine well-child care and you note a red purple patch on the left forehead, extending onto the upper eyelid, and posteriorly into the hairline (Figure 21-4). This lesion most likely represents a
(B) port wine stain
(C) café-au-lait macule
(D) congenital nevus
(E) salmon patch
FIGURE 21-4. See color plates.
18. The patient is noted to have delayed developmental milestones. You inform the parents that further evaluation should include a
(A) head MRI
(B) head ultrasound
(C) skin biopsy
19. Additionally, it is important that the patient be evaluated by a
(A) pediatric orthopedist
(B) pediatric cardiologist
(C) pediatric ophthalmologist
(E) pediatric gastroenterologist
1. (B) The most common diagnosis in the setting of multiple café-au-lait macules is neurofibromatosis. Optic gliomas peak in incidence between 4 and 6 years of age in patients with neurofibromatosis type I. The description of tan-brown well-demarcated patches is most suggestive of café-au-lait macules and not congenital nevi because nevi are usually more irregularly colored and often have a raised or infiltrative component. Retinal phakomas and periungual fibromas are associated with tuberous sclerosus.
2. (D) Multiple café-au-lait macules may be seen in numerous conditions and sometimes in isolation without other findings. McCune-Albright, Bloom, and Turner syndromes may all demonstrate multiple café-au-lait macules. The diagnostic criteria for neurofibromatosis state that the café-au-lait macules must be greater than 5 mm in diameter in children (>15 mm after puberty) and greater than 5 in number. Sturge-Weber syndrome involves a facial port wine stain and intracranial vascular malformations; café-au-lait macules are not seen more frequently in this condition.
3. (A) Axillary and inguinal freckling (Crowe sign) is another diagnostic criterion for neurofibromatosis type I. These findings may not appear until 3-5 years of age. A Shagreen patch, ash leaf spot, and periungual fibromas are seen in tuberous sclerosis. Mucosal lentigines are features of Peutz-Jeghers syndrome.
4. (C) A first-degree relative with findings consistent with neurofibromatosis can confirm the diagnosis when only multiple café-au-lait macules are present at the time of evaluation. Neurofibromatosis may run a benign course and individuals may not be aware of their diagnosis; therefore, a careful examination of first-degree relatives can be a very important diagnostic procedure.
5. (A) A slit-lamp exam can facilitate visualization of Lisch nodules on the iris, which constitutes another diagnostic criterion to aid in the diagnosis of neurofibromatosis. Lisch nodules may not be present in infancy, however, and therefore a negative exam will not rule out the diagnosis.
6. (D) Neurofibromas develop in individuals with neurofibromatosis over time. The presence of two or more satisfies one of the diagnostic criteria. These growths are typically soft and spongy and may be flesh colored to tan-brown or violaceous in color. They are typically asymptomatic, although sometimes patients report tenderness. Neurofibromas represent growth of nerve sheaths.
7. (E) The presence of one plexiform neurofibroma is a diagnostic criteria of neurofibromatosis type I. Plexiform neurofibromas are growths of a nerve sheath that extend along the length of a nerve and include multiple fascicles. These lesions may be located superficially in the dermis or more deeply in the soft tissue. There may be associated soft tissue and bony overgrowth. Malignant change may occur within these tumors. Some plexiform neurofibromas are noted to have an overlying giant café-au-lait macule, and there seems to be a higher incidence of malignant change within these lesions. Basal cell carcinomas are the most common skin cancer but are rarely fatal.
8. (B) Hypopigmented macules are common in the general population, with a prevalence as high as 4.7% in a white population. Higher incidences are typically reported in darker-skinned populations. There are not strict diagnostic criteria regarding skin lesions in tuberous sclerosus. It is generally stated that up to three hypopigmented macules in an otherwise healthy individual without a family history of tuberous sclerosus should not necessitate further workup.
9. (B) Hamartin and tuberin are tumor suppressor genes associated with tuberous sclerosus. Neurofibromin is the mutated gene of neurofibromatosis type I. Fibrillin is the mutated gene of Marfan syndrome. Profilaggrin is the mutated gene of ichthyosis vulgaris.
10. (E) All of the listed findings increase in frequency with the age of the patient. Occasionally the lesions may be present in infancy, but more frequently they are noted later in childhood or even adolescence. Angiofibromas are pink to red nodules with a smooth shiny surface most commonly distributed over the central face, especially around the nose in the malar region. Periungual fibromas have a similar histopathology to angiofibromas but are located around the nail unit. The shagreen patch is a yellowish brown or pink plaque most commonly found in the lumbosacral area of the back and having a pebbly surface. Confetti macules are hypopigmented small 1- to 3-mm patches usually distributed in large numbers over the forearms and lower legs.
11. (A) Periungual fibromas typically appear around puberty and therefore are less useful in the diagnosis of tuberous sclerosus in young children. Histologically, these lesions are regarded as angiofibromas, the same as the facial lesions. Clinically, they are located around or under the finger or toenails and appear as firm papules, often with a pointed keratotic surface. Some authors do report periungual fibromas in otherwise healthy adults. The forehead fibrous plaque is also histologically an angiofibroma. Molluscum fibrosum pendulum is diagnosed in the presence of solitary or multiple soft pedunculated growths, particularly in skin folds such as the neck or axilla. Confetti macules were described earlier (see answer 10).
12. (B) Infantile spasms are characterized by a brief contraction of the neck, trunk, and arm muscles, followed by a phase of sustained muscle contraction lasting 2 to 10 seconds. The initial phase of contraction may consist of flexion or extension in various combinations. The seizures appear in clusters of unpredictable and variable duration. Hundreds of these seizures may occur daily. The peak age of onset of these seizures is 3-8 months of age, with most having onset before 1 year of age. Tuberous sclerosis is only one of several entities associated with this seizure type. There is a high incidence of mental retardation in patients with infantile spasms.
13. (A) As mentioned, hamartin and tuberin are gene products that have been implicated in the development of tuberous sclerosis, and the genes encoding them function as tumor suppressor genes.
14. (C) Cardiac rhabdomyomas have been detected by fetal ultrasound in the setting of tuberous sclerosis. These are hamartomas that can occur anywhere in the heart and may lead to conduction defects or outflow obstruction. It is estimated that up to 90% of infants with cardiac rhabdomyomas have tuberous sclerosis. They are found in 30-40% of infants with tuberous sclerosis. The lesions can regress spontaneously and may be asymptomatic.
15. (D) Renal cysts are very common in tuberous sclerosis, with up to a quarter of children with tuberous sclerosis younger than 5 years noted to have them. Additionally, renal angiomyolipomas are detected in up to 8% of cases.
16. (E) Cortical tubers are areas of increased firmness on the cortical surface of the brain where there is loss of the gray-white matter junction. There is loss of normal cellular architecture in these areas. The number and size of these lesions correlate with the occurrence of seizures and mental retardation. Giant cell astrocytoma is a term used to describe large subependymal nodules that are other characteristic intracranial lesions associated with tuberous sclerosis. Some subependymal nodules may enlarge and obstruct flow of CSF, resulting in hydrocephalus. These astrocytomas are distinctly different than typical astrocytomas with rare malignant transformation.
17. (B) A red purple patch on the forehead in what is described as a V1 distribution of the trigeminal nerve is most likely a port wine stain. Hemangiomas may appear flat initially but more often have a pebbly texture and may not be very noticeable until 2-3 weeks of life. Salmon patches are typically midline over the glabella and occiput and likely represent a remnant of fetal circulation. Café-au-lait macules and congenital nevi are brown and pigmented lesions and should be distinguishable from a vascular lesion at this age.
18. (A) A port wine stain in the V1 distribution of the trigeminal nerve is associated with Sturge-Weber syndrome in up to 10% of patients. The classic triad of Sturge-Weber syndrome is an ipsilateral facial port wine stain that typically involves at least the V1 distribution, eye abnormalities, and brain abnormalities. The brain abnormalities may include leptomeningeal vascular malformations, calcifications, cerebral atrophy, enlarged choroid plexus, and developmental venous anomalies. There is a risk for seizures, brain hypoxia, neuronal loss, and hemiplegia. The results of early neuroimaging may not demonstrate the most typical findings but show only subtle changes such as an enlarged choroid plexus or local accelerated myelination.
19. (C) Sturge-Weber syndrome is associated with ocular abnormalities in up to a third of patients. The abnormalities include choroidal vascular anomalies, increased ocular pressure, buphthalmos, and glaucoma. Any facial port wine stain involving an eyelid should elicit prompt referral to an ophthalmologist for careful evaluation because there is an increased incidence of ocular anomalies in this setting.
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