Hospital for Sick Children's, The: Atlas of Pediatric Ophthalmology & Strabismus, 1st Edition

2

Lids and Adnexa

Alex V. Levin

Thomas W. Wilson

Robert Pashby

Dan DeAngelis

The lids and adnexa are composed of the anterior and posterior lamella. The anterior lamella is composed of the skin, subcutaneous tissue (which is the thinnest in the body), cilia, and orbicularis muscle. The posterior lamella consists of the orbital septum, tarsus (including meibomian glands), and conjunctiva. Embryologically, the upper eyelids are derived from the frontonasal process and the lower eyelid is derived from the maxillary process of the face. The eyelids fuse at approximately 7 weeks' gestation and typically open by the sixth month of gestation. The events that lead to eyelid separation in utero are thought to be related to either keratinization of the eyelid margin or secretions by the primitive meibomian glands. Proper development of the eyelids and adnexa is dependent on normal fusion of the eyelids. Inadequate fusion of the eyelids can result in eyelid colobomas and deficiencies in the adnexal structures, namely the cilia and tarsus. Similarly, abnormal separation of the eyelids can result in persistent bands to the globe or the opposing lid.

Early in the development of the adnexa, the meibomian glands are pluripotential structures that most commonly develop into glandular elements. However, they also have the potential to develop into follicular structures. If this occurs, then cilia are seen emerging from the posterior half of the eyelid margin, in the meibomian orifices. Thus, the patient will have an extra accessory row of anatomically normal eyelashes, which can cause significant ocular irritation.

The normal eyelid crease is formed by the projection of the levator fibers anteriorly, as they interdigitate among the fibers of the orbicularis oculi muscle. Congenital ptosis is caused by a dystrophic change in the levator muscle, resulting in a muscle that is variably functional. As such, the fibrosis in the muscle fibers results in an absent lid crease and in lid retraction on downgaze, both prominent features of congenital ptosis.

Lid abnormalities may occur in isolation or as part of systemic syndromes and disease processes. The underlying globe may also be abnormal. Lid and adnexal malformations may also be unilateral or bilateral. An understanding of these congenital and acquired lid disorders may assist the physician in understanding coexisting ocular and systemic abnormalities.

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Figure 2.1 Cryptophthalmia

Cryptophthalmia is complete or partial fusion of the eyelids usually with aberrant or no eyelashes. The underlying eye is typically microphthalmic and often fused to the overlying eyelid skin. Attempts to repair the skin defect often involve corneal transplantation with poor visual prognosis. The nasolacrimal system is usually absent or malformed. Cryptophthalmos can be either unilateral or bilateral. Autosomal recessive, and less commonly autosomal dominant, inheritance has been reported. Most cases are sporadic. Approximately one fourth of cases are isolated and the rest are associated with other malformations. Fraser syndrome is the association of cryptophthalmos (not obligatory), syndactyly, and abnormalities of the urogenital system. Some cases are due to mutations in the FRAS1 gene at 4q21.

 

Figure 2.2 Ankyloblepharon

Ankyloblepharon is complete or partial fusion of the eyelid margins. Unlike cryptophthalmus, the globe is usually normal and proper lid structures are recognizable. Most often the connections are thin bands as shown in these images. The skin adjoining the lids is called filiform adnatum. Although the strands look thin, one should not separate the lids by manual traction. Treatment is by surgical separation of the eyelid margins. Rarely, ankyloblepharon can be part of systemic conditions such as Hay-Wells syndrome. More often it is a sporadic nongenetic anomaly.

 

Figure 2.3 Blepharophimosis

Blepharophimosis syndrome (BPES) is a combination of congenital ptosis, epicanthus inversus, and short horizontal palpebral fissure length with telecanthus (increased distance between the medial canthi). Ectropion may also be seen. As shown here, the patient may use a chin lift in the straight-ahead viewing position. There is an autosomal dominant inheritance. Type 1 BPES is also characterized by female infertility and is due to abnormalities in the FOXL2 gene at 3q22. Type 2 BPES is due to abnormalities in the same locus but with no systemic abnormalities. Another locus for isolated BPES is proposed on chromosome 7q. Treatment options include a resection of the medial canthal skin (Roveda procedure) and ptosis surgery.

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Figure 2.4 Epicanthus

There are four types of epicanthal folds: supraciliaris (upper photo), palpebralis (not pictured), tarsalis (lower photo), and inversus (see Fig. 2.3). Although epicanthus inversus is more common in blepharophimosis, epicanthus is otherwise generally a nonspecific minor malformation often seen in normal individuals. Epicanthus is more prevalent in certain ethnic groups.

 

Figure 2.5 Coloboma

Eyelid coloboma is a defect in the upper or lower eyelid margin. The most common location is in the nasal half of the upper lid and may be isolated or seen in association with Goldenhar syndrome. Characteristic lower eyelid colobomas are associated with Treacher Collins syndrome or mandibulofacial dysostosis (Chapter 14: Craniofacial, Figs. 14.14, 14.15 and 14.16), where the medial aspect of the lid downslopes gradually, followed by a sharp uprise to the normal lateral margin. When the medial aspect of the lid is involved with coloboma, the lacrimal puncta and canaliculus may be absent and the caruncle abnormal. As seen in this image, lid coloboma may also be associated with a form of symblepharon where conjunctiva and/or lid tissue may be attached to the globe with or without scarring of the cornea.

 

Figure 2.6 Epiblepharon

Epiblepharon is caused by a horizontal fold of skin under the medial lower eyelid, which rotates the eyelashes toward the globe. It is more common in some Asian children, but may be seen in any ethnic group. Epiblepharon can often resolve with midfacial growth. Surgery is indicated for corneal irritation and scarring due to trichiasis. A horizontal strip of skin and orbicularis corresponding to the fold is removed in order to reorient the eyelashes. It is important not to include the epicanthal folds with the resection. This entity is not considered a major malformation and is often seen in the otherwise normal general population.

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Figure 2.7 Telecanthus and Hypertelorism

Telecanthus is an increased distance between the medial canthi and should be distinguished from hypertelorism, which is an increased distance between the orbits. Hypertelorism is diagnosed using the Mustardé index: ICD/IPD >0.55 (where ICD = inner canthal distance and IPD = measured interpupillary distance). Hypertelorism is a radiologic diagnosis, measuring the interlacrimal distance. This patient has both telecanthus and hypertelorism. Telecanthus without hypertelorism is seen in blepharophimosis syndrome (Fig. 2.3). In telecanthus, the lower lid puncta is often displaced lateral to the medial limbus in primary gaze.

 

Figure 2.8 Lid Retraction

The differential diagnoses of eyelid retraction include the “setting sun” sign of hydrocephalus, Marcus-Gunn jaw wink, Parinaud dorsal midbrain syndrome, neonatal Graves disease, and cranial nerve III palsy with aberrant regeneration. Pseudo eyelid retraction can be caused by proptosis or restriction to upgaze on the ipsilateral side causing overfiring of the superior rectus and subsequent levator palpebra contraction and contralateral ptosis. This photograph was taken just after turning off the lights in a normal child who is demonstrating a common normal infant reflex of upper lid retraction, often associated with tonic downgaze. When the lights are turned back on, the lids will return to their usual position.

 

Figure 2.9 Congenital Ptosis

Congenital ptosis is caused by dysgenesis of the levator palpebral muscle. There is typically no lid crease and a decreased ability to relax the levator in downgaze. It may be unilateral or bilateral. Treatment options include levator resection for patients with mild ptosis and good levator function. Frontalis suspension using fascia lata or artificial materials is recommended for children with severe ptosis with poor levator function. Congenital ptosis may be seen in a wide variety of genetic syndromes but is usually an isolated anomaly.

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Figure 2.10 Marcus-Gunn Jaw Wink

Marcus-Gunn jaw wink is caused by synkinesis between nerves supplying the muscles of mastication (pterygoid) and the levator palpebral muscle. Patients will often have ptosis but with jaw manipulation will have upward movement of the affected eyelid. Treatment is tailored toward either the synkinesis or the ptosis. A complete levator disinsertion and frontalis resuspension unilaterally or bilaterally address the synkinesis. Unilateral frontalis suspension can be used if the ptosis alone is more problematic. Marcus-Gunn jaw wink is seen in approximately 2% of all congenital ptosis.

 

Figure 2.11 Congenital Tarsal Kink

Tarsal kink is caused by a folding of the upper eyelid tarsal plate back onto itself. Although the eyelid appears to be everted, reversion is not easily performed in part due to edema and/or fibrosis. This entity should be differentiated from a floppy eyelid as might be seen in trisomy 21 (Chapter 13: Chromosomes, Fig. 13.7). Treatment would include mechanical unfolding of the tarsal plate and taping the eyelid in its normal position or surgical incision along the tarsal plate.

 

Figure 2.12 Congenital Ectropion

Congenital ectropion is an outward turning of the eyelid margin at birth. It is associated with blepharophimosis, buphthalmos, orbital tumor, and anterior lamellar deficiencies but may also be an isolated unilateral or bilateral abnormality. Ocular surface desiccation tends to be less of a problem in infants and young children, but lubrication is recommended. The palpebral conjunctiva can appear quite injected, as demonstrated here. Chemosis may also be seen.

 

Figure 2.13 Congenital Entropion

Congenital entropion is an inward turning of the eyelid margin. It is associated with epiblepharon (Fig. 2.6), microphthalmia, anophthalmia, or enophthalmos. Trichiasis may result in chronic corneal epithelial erosion, pannus, or ulcer. Some children become remarkably symptom free, which can contribute to a delay in diagnosis of such complications. Topical lubrication is recommended until definitive surgical cure.

 

Figure 2.14 Distichiasis

Distichiasis is an extra row of eyelashes on the inferior eyelid. The lashes extend from the opening of the meibomian glands. Distichiasis can be associated with the autosomal dominant distichiasis-lymphedema syndrome, due to mutations in the FOXC2 gene at 16q24.3. Patients may also have cleft palate, diabetes, ptosis, or renal disease. Treatment would include eyelid margin splitting with cryotherapy to the hair follicles.

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Figure 2.15 Ectopic Lashes

Isolated lashes or clumps of lashes can be seen exiting from a meibomian gland without a more complete row as seen in distichiasis (Fig. 2.14). Ectopic hair follicles are located within the eyelid. This abnormality is an isolated anomaly not usually associated with a genetic syndrome. It is usually unilateral and occurs on an otherwise normal lid.

 

Figure 2.16 Trichomegaly

Trichomegaly can be a primary or secondary disorder. In the former, it may be an isolated abnormality or a manifestation of numerous syndromes such as Cornelia de Lange syndrome (Chapter 29: Syndromes, Fig. 29.2). It is almost always bilateral and occurs on otherwise normal lids. There are no normative values for lash length, leaving this to be a subjective diagnosis. Prostaglandin analogs used to treat glaucoma are a common cause of trichomegaly, as demonstrated here. Upper lashes tend to be more affected.

 

Figure 2.17 Capillary Hemangioma—Nonamblyogenic

Capillary hemangiomas are the most common adnexal tumor in children. This child has a large capillary hemangioma on the upper eyelid. The lesion is not occluding the visual axis and cycloplegic refraction did not reveal anisometropia or astigmatism. As a result, amblyopia is unlikely. However, hemangiomas typically grow rapidly in the first year of life, after which they may regress completely (70% by 7 years of age). A lesion that may appear at birth as not much more than a macule may become amblyogenic within months. Periodic follow-up throughout the first 2 years of life is essential.

 

Figure 2.18 Capillary Hemangioma—Amblyogenic

This child has an extensive capillary with complete secondary ptosis. Urgent treatment is required to restore the visual axis and prevent permanent visual loss due to amblyopia. Larger lesions such as this can be associated with excessive platelet and fibrinogen consumption (Kasabach-Merritt syndrome). Although treatment with intralesional or topical steroids might be useful in less extensive amblyogenic capillary hemangioma, a lesion of this size will often require systemic treatment with steroids, systemic steroids, and/or α-interferon. Subsequent patching therapy will be necessary after the tumor size has been reduced.

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Figure 2.19 Capillary Hemangioma

This is the same patient pictured in Figure 2.18. Note the extensive hemangioma extending into the orbit causing significant proptosis, optic nerve compression with unilateral disc swelling, retinal vascular congestion, and peripapillary hemorrhage. Intralesional steroids are contraindicated due to fear of spread to the optic nerve and retinal circulation. Surgical options are few and rarely indicated.

 

Figure 2.20 Cavernous Hemangioma

Cavernous hemangioma is a deeper blood vessel tumor in the lids and is not associated with the overlying “strawberry” capillary hemangioma of the skin (Fig. 2.18). It often has a bluish color. This tumor can cause significant globe displacement, as shown here, and secondary astigmatic or strabismic amblyopia. The diagnosis can be confirmed by surgical excision. Change in size with age does not occur. Differential diagnoses include lymphangioma, capillary hemangioma, rhabdomyosarcoma, teratoma, or histiocytic lesion. Cavernous hemangioma is painless and usually isolated to the lid.

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Figure 2.21 Acute External Hordeolum

External hordeolum, also known as sty, is an acute inflammatory mass at the eyelid margin resulting from obstruction of a gland of Moll/Zeis. Significant pain, redness, and edema are typical. The lesion may drain at the lid margin, through the skin, or through the palpebral conjunctiva. Treatment includes a combination of warm compresses, lid hygiene (e.g., baby shampoo eyelash scrubs), topical antibiotics, and, rarely, possible surgical drainage.

 

Figure 2.22 Internal Hordeolum

An internal hordeolum, also known as chalazion, may be acute or, as shown here, a chronic nodular lesion within the eyelid. It is the result of a granulomatous response to sebaceous material trapped within the eyelid from prior blockage (acute phase) of a meibomian gland. Surgical removal may be necessary, although long-term use of lid hygiene can be effective. Recurrent hordeolum involving all four lids at various times is common.

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Figure 2.23 Blepharitis

Significant scales and collarettes are seen at the base of the eyelashes in this child with chronic blepharitis: An idiopathic condition in which there is suboptimal flow of the meibomian glands. Blepharitis predisposes to hordeolum. Conjunctival and corneal desiccation and inflammation due to deficient tear film or from staphylococcal immune keratitis (Chapter 5: Cornea, Fig. 5.26) can lead to scarring and visual impairment. Treatment includes topical antibiotics, warm compresses, lid hygiene, and, occasionally, topical steroids to control the surface inflammation. Oral antibiotics such as erythromycin may be used, especially when associated with rosacea.

 

Figure 2.24 Benign Papilloma

Benign papillomas are common adult eyelid lesions, but they can also occur in children. The tumor is similar to the skin in color and can be sessile (as seen in this photo) or pedunculated. Surgical removal may be required, usually for cosmetic reasons, but symptoms may also be present. Verrucae vulgaris is included in the differential diagnoses but is rare in childhood.

 

Figure 2.25 Pilomatrixoma

Pilomatrixoma is a benign tumor arising from matrix hair cells in the lid. They present in childhood or young adulthood. This lesion is more common in patients with Down syndrome (Chapter 13: Chromosomes, Fig. 13.7). As seen in this photo, a single lesion located near the eyebrow is typical. Subcutaneous lesions may have white lobular areas or a bluish appearance. Complete surgical excision is recommended.

 

Figure 2.26 Giant Hairy Nevus

Giant hairy nevus, also known as nevomelanocytic nevus, is a large pigmented lesion involving the trunk, scalp, face, or extremities. The risk of malignant transformation increases with larger lesions. Hair may be present at birth and does not increase or decrease the risk of malignant transformation. The normal lashes are also often abnormally directed. Although surgical excision is recommended, extensive reconstructive surgery may be required.