CHAPTER 64 CONGENITAL ANOMALIES OF THE BREAST: TUBEROUS BREASTS, POLAND'S SYNDROME, AND ASYMMETRY
KENNETH C. SHESTAK, S. ALEX ROTTGERS, LORELEI J. GRUNWALDT, DEREK FLETCHER, AND ANGELA SONG LANDFAIR
GENERAL CONSIDERATIONS— THE PATIENT, THE FAMILY, AND THE DOCTOR
Breast appearance in the range of “normal” is of great importance for a young woman’s sexual identity and the perception of her femininity.1 Deformities of the breast can cause issues with clothing, psychological stress, depression, peer rejection, and psychosexual dysfunction, particularly in adolescent females. In the more mature woman, there is potential problem with breast feeding. Surgeons should be aware that congenital breast deformities may be associated with abnormalities of other organ systems such as the genitourinary system.
Many breast deformities lend themselves to correction or reconstruction during or after breast development is complete. Since the breast evolves with time, and future revisions may be required, the timing and method of reconstruction is determined only after a detailed discussion with the patient and her family. They must understand the realities and the limitations of a proposed procedure. Honest communication is central to the process of informed consent and is the foundation of a healthy doctor–patient relationship.
Pediatric breast deformities are divided into hyperplastic, hypoplastic, and posttraumatic defects. Each represents various pathologic entities and a spectrum of disease which warrants consideration on an individual case basis. Treatment goals focus on accurate diagnosis, appropriate timing, and technique selection in order to optimize the cosmetic outcome and best satisfy the psychological needs of the patient.
Embryology and Development
Breast development begins between the fifth and seventh weeks of uterine life. At this time, the mammary lines form as bilateral linear condensations of ectoderm extending from the axillary areas to the inguinal regions. This ectoderm comes to lie below the surface of the embryo and at this point they are called the mammary ridges or milk lines which can potentially form the breast tissue (Figure 64.1A). In most instances, however, only a small focus of mammary tissue overlying the thoracic region in the region of the fourth intercostal space (ICS) persists while those in the other areas regress. The tissue aggregate in the fourth ICS continues to divide and thicken, and by the eighth gestational week ectoderm has invaded into the underlying mesenchyme in a branching pattern. At 16 weeks of gestation, 15 to 25 epithelial branches have formed, but canalization has not begun. It is during the third trimester, under the influence of placental sex hormones (mainly estrogen and progesterone), that these epithelial branches are canalized, and primitive breast ducts begin to form. At 32 weeks, differentiation of the parenchyma into lobules begins. The nipple–areolar complex (NAC) begins to form and is completed in the early postnatal period. Branching and canalization continue after birth and through early childhood.1
Breast development is relatively quiescent throughout childhood. Further growth and maturation is initiated at the time of thelarche. With the increased growth at thelarche, the breast progresses through a series of morphological stages, as described by the Tanner classification.2 A Tanner stage 1 breast is prepubertal, with no appreciable breast parenchyma and slight nipple elevation. At thelarche, the breast progresses toward Tanner stage 2 with enlargement of the NAC and elevation of the breast/nipple as a small mound. Tanner stage 3 describes a breast with further enlargement and a smooth transition between the breast and areola without separation of their contours. As the breast continues to enlarge toward Tanner stage 4, the nipple and areola enlarge more and project as a secondary mound above the breast contour. Finally, at the final Tanner stage 5, the breast achieves its mature size and form. The areola has receded and forms a continuous contour with the surrounding breast.2 Most females would have achieved full breast maturity by 16 to 18 years of age; however, the evolution of the breast form continues as a lifelong process.
Various conditions result in hypoplasia or aplasia of the breast. Hypoplasia in the form of mild asymmetry, constricted breast deformities, and mild presentations of Poland syndrome is much more common than aplasia of the breast. Both the constricted breast deformity and Poland syndrome will be discussed in depth below.
Terms used to describe breast aplasia include athelia, isolated absence of the NAC; amasia, absence of breast parenchyma; and amastia, absence of both the breast tissue and the NAC.1 Though this nomenclature would suggest otherwise, athelia and amasia do not seem to occur without each other. These conditions and their distinctions are delineated by Trier.3
Hyperplastic disorders include the excess development of mammary tissue in an otherwise normal anatomic location as well as the development of breast tissue or nipple–areolar structures in locations remote from the normal thoracic distribution. Treatments require simple observation, excision, or breast reduction techniques. Accurate diagnosis and assessment of the severity of the deformity is essential, along with counseling the patient and the family.
Virginal hypertrophy of the breast is a rare condition that results in excessive, rapid, and often non-yielding proliferation of breast tissue. The etiology is unclear, but pathologic evaluation seems to suggest an abnormal sensitivity of the glandular tissue to the stimulatory effect of estrogen in the setting of normal hormonal levels. The condition may be unilateral or bilateral. Patients often exhibit a rapid onset of breast hypertrophy only months after the initiation of breast growth that quickly becomes symptomatic with the typical signs of macromastia (shoulder and neck pain, bra strap grooving, and rashes) along with tender breast parenchyma, thinned skin, striae, and dilated veins. They will generally present because of the rapid progression.4
FIGURE 64.1. The topography of polymastia. A. The milk line extending from the axilla to the groin. B. A patient with bilateral polymastia with breasts in the axilla and polythelia as demonstrated by nipple–areola complexes on them.
Treatment is ultimately surgical. Breast reduction techniques are standard as a first-line therapy, and goals should be to first achieve an improved breast size and symptom relief. Improved symmetry in asymmetric cases of hypertrophy is also important. Some patients require additional breast reduction operations, and mastectomy may be considered in refractory cases.4 Pharmacologic therapy in the form of medroxyprogesterone acetate, dydrogesterone, tamoxifen, and bromocriptine have been employed in the past but side effects have limited their use.1,4
Like virginal hypertrophy, giant fibroadenomas result from abnormal sensitivity of the breast tissue to normal hormonal levels. This entity is a discrete benign tumor that enlarges rapidly and causes asymmetric enlargement of the breast.5 The treatment is also surgical excision. This is accomplished through breast reduction techniques with a pedicle design and excision pattern that incorporates the mass into the resection specimen and positions the pedicle in the location of the greatest amount of normal breast tissue to preserve breast fullness.5 Concurrent matching procedures on the contralateral breast or delayed mastopexy/augmentative procedures may be required to achieve symmetry. Timing for surgery is driven by the rate of tumor growth. Excision may be necessitated prior to completion breast development to limit the distortion of the breast and to optimize the aesthetic result.
The differential diagnosis for fibroadenoma includes cystosarcoma phyllodes, which can be difficult to differentiate based on a biopsy. Since the incidence of phyllodes tumor is less than 1.3%, treatment should include simple excision of the mass followed by consideration for mastectomy or adjuvant therapy if the diagnosis of a malignant phyllodes tumor is made.6 Consultation with surgical oncology or pediatric surgery is appropriate in this circumstance.
Polythelia, the presence of accessory nipples, is a common pediatric abnormality and has a reported incidence as high as 5.6%.1 Polymastia, the development of supernumerary breast tissue, with or without a nipple or areola, is much less common. Both are presumed to arise from an incomplete regression of the mammary ridge during embryonic development, leaving residual mammary tissue along the “milk line” between the axilla and inguinal region. Supernumerary nipples typically occur caudal to the true nipple and can present as a partial or complete nipple, partial or complete areola, or a combination. They may be isolated or multiple. While supernumerary nipples are often found during the neonatal period or childhood, accessory breast tissue, either with or without an accessory nipple, is often not identified until the tissue hypertrophies because of puberty, pregnancy, or lactation. Polymastia most often occurs with axillary breast tissue7 (Figure 64.1B). Some authors differentiate the terms “polymastia” and “ectopic breast tissue.” When used strictly, polymastia refers to breast tissue occurring along the “milk line.” “Ectopic breast tissue” refers to the remarkably rare occurrence of breast tissue in other locations in the body.
Supernumerary breast tissue may be removed surgically with placement of closed suction drains. If left in situ, regular monitoring for breast pathology and malignancy must be performed, as this accessory mammary tissue is subject to an equal rate of breast malignancy as the normally positioned gland. Treatment of a mass arising within this tissue must be treated with the same oncologic principles as any breast mass.7
Though usually seen by plastic surgeons in its most severe form, gynecomastia is by far the most common pediatric breast deformity occurring in up to 65% of pubescent males.8 Gynecomastia is a clinical term denoting enlargement of the male breast such that it appears female. It is most often related to proliferation of ductal epithelium as no true acinar development occurs. Most often it is idiopathic in its etiology, but the proliferation can be a symptom of an underlying pathologic process. “Physiologic” gynecomastia is common during three periods of a male’s lifespan. Neonates often exhibit small enlargement of the breast bud and may secrete colostrum transiently as a response to maternal estrogens. As stated above, the fluctuating hormonal milieu of early puberty produces gynecomastia in up to 65% of males between 14 and 16 years of age, and declining androgen production seen in later life can lead to a relative estrogen excess and to the development of gynecomastia. If other signs of pubertal development are present, a standard history and physical suffices for evaluation, but in the absence of normal pubertal development, a more extensive evaluation is required. In most males, pubertal gynecomastia is mild and transient.1
While gynecomastia may be considered normal in these age groups, a history and physical exam should be performed to rule out common causes such as testicular cancer, pituitary tumors, adrenal tumors, liver disease, paraneoplastic syndromes, Klinefelter’s syndrome, thyroid disease, renal failure, myotonic dystrophy, human immunodeficiency virus, marijuana use, alcohol, anabolic steroids, and medications known to cause gynecomastia.1,8 The most common etiology of gynecomastia in adolescents is idiopathic, while in patients over 40 years of age it is most often drug induced.
When significant gynecomastia persists for 2 years beyond puberty, surgery is often indicated to recreate a normal chest contour and nipple location with limited scaring. The first procedures described for gynecomastia focused on subcutaneous mastectomy through periareolar or various other incisions.1 This remains the best approach in cases of dense fibrous tissue that is located in a subareolar plane. Others have advocated the use of ultrasound-assisted liposuction as the standard first-line approach followed by secondary excision only for a marked residual deformity.8 The ideal approach in most cases is a combination of these, with direct periareolar excision of the central, fibrous breast bud followed by liposuction to contour the peripheral breast area representing the authors’ preferred method. Severely redundant skin may be excised primarily with a periareolar or vertical skin excision, but we believe that the significant elasticity of youthful skin often allows adequate retraction of skin excess such that primary skin excision is not warranted in most cases. If the skin redundancy persists beyond 6 to 12 months postoperatively, excision is undertaken.9 Care is taken during resection to avoid over-resection and the creation of a “dishing” or nipple retraction. Regardless of the technique used, postoperative care involves the use of closed suction drains following excision, prolonged compressive garment application (for at least 6 weeks), and twice-daily deep tissue massage instituted at 1 week postoperatively along with abstinence from heavy exercise for 1 month. These adjuncts aid in tissue re-draping, reduce edema, and limit formation of seroma and hematomas. The cited references8,9 provide an excellent overview of the subject.
DEVELOPMENTAL BREAST ASYMMETRY—APPROACHES TO TREATMENT
Both hypoplastic and hyperplastic breast disorders represent a spectrum of disease. Patients often present with bilateral manifestations of breast hypoplasia, breast constriction, and hyperplasia. Significant asymmetries can result due to variable expressions of these entities. The key to achieving an outcome that pleases both the patient and the surgeon is to correct identification of abnormalities producing the asymmetry. The breast morphology is examined to determine whether the problem is unilateral or bilateral. As discussed below, bilateral correction is usually required.
An essential aspect in formulating a treatment approach is understanding what the patient perceives as abnormal, which breast she feels is preferable, and what her goals of treatment are. Patient and family are educated that breast symmetry and contour will be improved but perfection is not realistic. Perfection, the goal of every procedure, is rarely achieved. If patients understand this before surgery, they are generally pleased with the result.
In some instances, it is possible to operate on one breast, most often when a breast reduction alone will produce improved symmetry. In our experience, the best and most permanent results are seen in cases of breast asymmetry where a patient has a smaller, but aesthetically pleasing breast and wants the larger breast reduced to match the smaller breast. A breast reduction or mastopexy can improve symmetry, correct ptosis in the larger breast, and avoid the potential problems of implant-based reconstruction/augmentation. A unilateral reduction mammoplasty limits the number of variables at play, increasing the predictability of the final outcome.
In most cases, the clinical scenario is not so simple however. In our experience, most surgical procedures involve bilateral surgery. Differential reductions, mastopexies, augmentations, and most frequently combinations of these must be employed to achieve the most harmonious balance between the breasts. Careful consideration is given to each breast and each breast abnormality within the context of the patient’s expectations. An explanation of surgical details such as incision placement and a discussion of implant complications are provided. In addition, the patient is informed that the breast appearance will most likely change with weight fluctuation, pregnancy, and aging regardless of the procedures undertaken. The important elements of an informed consent are explained to both the patient and her parents.
Timing for reconstruction is also addressed with the patient and her family. As the breast is constantly developing and evolving in form, it is usually best to delay treatment until the patient has finished growing and her breasts are mature (patients who are 16 years of age or older).
We employed this strategy in the patient shown in Case 2. She was seen at age 15 with a combination of right breast hypoplasia with breast constriction and left breast hypertrophy (Figure 64.2A, B). The best approach was to wait until the summer prior to her senior year in high school at which time she underwent a periareola augmentation/mastopexy on the right side with the partial subpectoral placement of a saline implant and a left vertical mastopexy. She is shown at 4 months following surgery (Figure 64.2C, D) with improved symmetry.
Earlier intervention can be considered in cases of more severe deformities in a setting of a patient who appears to be mature before age 16 years. When surgical procedures are undertaken in these younger patients, future revisions are more common.
Another approach to this problem is placement of a breast tissue expander followed by immediate expansion to correct for the current asymmetry. If patients are young and likely to have continued maturation of their breast, this expander can be left in place with subsequent adjustments made to the volume over a period of months to years. The ultimate exchange for a permanent prosthetic can be made when the patient has fully matured, and she desires the completion of her reconstruction. The senior author (KCS) first encountered this strategy when two postmastectomy patients were lost to follow-up after placement of their tissue expander and subsequent expansion. The patients did not return for placement of their permanent prostheses until years later. In the interim, they had no complications and exhibited breast contours that were appealing. Placement of a tissue expander should not be considered definitive reconstruction, but it offers a means for a young patient to have her emotional and social concerns centered around a significant breast asymmetry addressed in a timely manner and in a way that can be adjusted as she continues to grow. It also limits the risks of compromising her ultimate outcome once she has reached maturity.
SUMMARY OF KEY FEATURES OF CONGENITAL BREAST ASYMMETRY(IES)
Treat the patient and manage the family. Select the best procedure(s) and optimal time for surgical intervention and explain your recommendations to both the patient and the family. Bilateral procedures are more common than unilateral procedures. Short scar mammoplasty techniques—both breast reductions and mastopexies—are preferable.10 The surgeon must stress that the goal of the procedure is improvement rather than perfection. Most often the patients and their families are highly appreciative of the surgical outcome.
FIGURE 64.2. A. A 16-year-old patient with right breast hypoplasia and left breast hyperplasia. B. The plan for right dual lane breast augmentation and left vertical breast reduction. C, D. Pre-op AP and oblique views of the breasts. E, F. Four-month postoperative breast appearance.
THE SPECTRUM OF BREAST CONSTRICTION OR THE TUBEROUS BREAST DEFORMITY
Tuberous breast deformity describes a spectrum of aberrant breast morphology first reported by Rees and Aston.11 The term “tuberous breast” refers to the similarity in shape of affected breasts to a tuberous plant root. Since its original description in 1976, multiple authors have reported similar anomalous breast deformities under various names, including Snoopy breast, constricted breast, tubular breast deformity, lower pole hypoplastic breast, narrow-based breast, herniated areola complex, domed nipple, and nipple breast. The most commonly used term now is the “constricted breast.”
Tuberous breast deformity describes a broad spectrum of aberrant breast shape that presents during adolescent breast development. The degree of deformity varies on a continuum from mild to severe.12Affected breasts demonstrate a constellation of findings, each with variable degrees of contribution to the deformity as a whole. These findings include:
Constricted breast base or narrowed breast “foot print”
Contracted skin envelope in both vertical and horizontal dimensions
Hypoplasia of the breast parenchyma
Elevated inframammary fold (IMF)
Short NAC-to-IMF distance (“high tight fold”)
Herniation (or pseudo-herniation) of breast parenchyma into the NAC
The key features of tuberous deformity are lower pole skin envelope deficiency in the vertical and horizontal dimensions, parenchymal hypoplasia, and constriction of breast development in the lower pole. Pseudo-herniation of the NAC is a common but not constant feature of tuberous breast deformity, occurring in 40% and 50% of cases. However, breasts that are more severely affected and/or asymmetric tend to demonstrate greater degrees of NAC involvement, including enlargement of the areola and herniation of underlying parenchyma into the NAC.12-14
There is no a consensus in the literature regarding what degree of deformity predominates. Grolleau et al.14 reported a predominance of mild deformity (54%), Von Heimburg reported a predominance of moderate/severe deformity (44%), and DeLuca-Pytell et al.12 reported a predominance of severe deformity (60.3%). Either unilateral or bilateral breast involvement may occur, though reports in the literature vary as to which presentation is more common.12-14
The incidence of tuberous breast deformity among the general population is not known. The incidence of tuberous breast deformity among patients with breast asymmetry seeking aesthetic breast surgery has been reported. In their retrospective review of 375 women presenting for mammaplasty, DeLuca-Pytell et al.12 found a strong association between tuberous deformity and asymmetry. Of the 375 women included in the study, 81.1% were found to have asymmetric breasts. Of the women demonstrating asymmetry, 88.8% were found to have some degree of tuberous breast deformity. Conversely, tuberous deformity was noted in only 7% of patients with symmetric breasts.
The definitive etiology of tuberous breast deformity is unknown; however, the theory proposed by Grolleau et al.14 seems to most aptly fit the clinical picture. They proposed anomalous superficial fascial adhesions between the dermis and the underlying muscular plane. The adhesions restrict normal development of the breast parenchyma and overlying skin envelope in the lower pole. The restriction favors, instead, growth of the breast away from the chest wall, leading to the formation of tuberous shape and enlargement of the areola as the breast develops during adolescence.14 Mandrekas et al.15hypothesized that the deformity results from a combination of an abnormal constricting fibrous ring surrounding the periphery of the NAC and a normal superficial fascial window beneath the areola. Because the ring density is highest in the lower pole, the developing adolescent breast is unable to expand inferiorly and is forced to grow away from the chest wall, toward the superficial fascial window beneath the areola. It is the degree of superficial fascial aberrancy that determines the degree of severity of the deformity.15
The broad spectrum of deformity and inconsistent nomenclature used to describe tuberous breasts has led to the formation of several classification systems. Von Heimburg13 stratified tuberous deformities into four subtypes based on the degree of breast base constriction and subareolar skin deficiency:
Type I: hypoplasia of the lower medial quadrant
Type II: hypoplasia of the lower medial and lateral quadrants with sufficient skin in the subareolar area
Type III: hypoplasia of the lower medial and lateral quadrants with a deficiency of the subareolar skin
Type IV: severe breast constriction with minimal breast base
Grolleau et al.14 simplified the Heimburg classification into three types by combining types II and III:
Type I: lower medial quadrant deficiency
Type II: lower medial and lateral quadrant deficiency
Type III: deficiency of all four quadrants
This latter classification is most commonly used by the authors (Figure 64.3).
Aesthetic surgery of the tuberous breast poses a challenge to the plastic surgeon. The broad spectrum in aberrant breast shapes requires a systematic approach to consistently achieve satisfactory outcomes. Once the diagnosis is established, every effort must be made to accurately analyze the deformity. Careful consideration as to the severity of deformity, presence or absence of asymmetry, and the quantification of the various morphological elements contributing to the deformity should be measured and noted. This includes discrepancies in IMF level, the nipple to fold distance, the suprasternal notch to nipple distance, the breast and chest base width dimensions, the patient’s torso dimensions, and an estimate of her native breast tissue and any asymmetries of the parenchyma. Once the deformity has been accurately assessed and classified, the patient (and her parents) should be engaged in a thorough discussion regarding the various elements of her deformity, the proposed treatment, challenges and limitations of operative intervention, possible complications, and appropriate expectations regarding outcome.
The goals of surgery are to restore volume to the hypoplastic breast(s), expand the lower pole by releasing the tethering fibrous attachments or bands between the breast parenchyma and deep fascial and pectoralis muscle and also between the breast parenchyma and skin, and where necessary reduce the areola size and recess the herniated breast tissue. These are best accomplished with an infra-areolar incision which provides direct access for the release of the constricting fibrous bands and for placement of an implant—most often in a dual plane16 (i.e., in the subpectoral space superiorly and the sub-glandular space inferiorly16). The incision can be easily converted to a circumareolar incision if a circumareolar mastopexy is planned. Saline implants or silicone gel breast implants may be used. Saline devices offer the advantage of mild adjustability in this population where native breast volume asymmetry is so prevalent. There must be an increase in the base dimensions of the breast in terms of both width and height. In the vast majority of cases, the procedure can be carried out in a single stage. A two-stage procedure, which entails tissue expander placement followed by implant insertion at a second stage, is usually reserved for only the most severe cases.
FIGURE 64.3. The Grolleau classification (types I–III) of breast constriction by anatomic location of the constriction on the breast mound.
A typical patient is illustrated in Figure 64.4A–F. This adolescent female presented at age 17 with severe bilateral breast hypoplasia and a Grolleau type III constriction of both breasts (Figure 64.4A–F) with significant hypoplasia and pseudo-herniation of breast tissue through the areola. The surgical plan entailed the partial retropectoral placement of 330 cc moderate profile, smooth-surfaced, saline implants using a dual-plane approach incorporating a circumareolar mastopexy with Gortex suture. The 30-month postoperative follow-up evaluation demonstrates (Figure 64.4D–F) improvement in breast appearance from the standpoint of volume, contour, and nipple–areola appearance.
In summary, the key features of treatment include an assessment of the unique of features associated with each individual deformity and restoring the mammary base dimension and addressing the shortened nipple to fold distance by lowering the IMF. This is accomplished by release of constricting bands between the breast parenchyma and the deep fascial/muscle tissue and placing a prosthetic implant in the dual plane position. When pseudo-herniation of the NAC is present this is reduced and the size of the areola is controlled through a circumareolar mastopexy approach. An important principle is to address the breast asymmetry by altering procedures on each breast accordingly. At this point in time, a prosthetic implant is the mainstay in providing increased volume to the breast; however, the injection of autologous adipose tissue17 if available is likely to play an increased role in these patients in the near future.
Poland syndrome (Poland anomaly) is a rare congenital malformation.1,18 Although named after a medical student and anatomist Alfred Poland, the condition was originally described by Lallemand in 1826. These initial findings were later reiterated by Poland in 1841 at Guys Hospital in London who gave a precise description of the condition.18 Poland syndrome is associated with various degrees of thoracic and ipsilateral upper extremity anomalies. Pathognomonic of Poland syndrome is the agenesis of the sternocostal head of the pectoralis major muscle.
The classic dysmorphogenesis of Poland’s syndrome includes ipsilateral breast hypoplasia or aplasia, hypoplasia or aplasia of other chest wall muscles, bony or cartilage abnormalities of rib and sternum, and ipsilateral upper limb anomalies. The association with complex syndactyly was made by Floriep in 1939.
The incidence of Poland’s syndrome is estimated at 1 in 30,000 to 1 in 100,000 live births, with the majority of cases being sporadic.1 The incidence is higher in men than for women at 3:1, and the right side is often more affected than the left by 3:1.1,19 However, many men remain undiagnosed unless they seek treatment for hand anomalies. The accompanying ipsilateral upper extremity deformity can manifest as shortened upper arm, forearm, or fingers, termed brachysymphalangism. Webbing of the ipsilateral fingers can occur. Fusion of the carpal bones, absence of the middle phalanges, and variable syndactyly are frequent presentations. The frequency of hand abnormalities in the Poland syndrome patient is 13.5% to 56%. However, the diversity of the clinical expression most probably causes an underestimation of the frequency of Poland syndrome.19
The most obvious deformities presenting to the clinician are limb anomalies in both females and males and ipsilateral hypomastia in females.
FIGURE 64.4. A. Preoperative AP, (B) lateral, and (C) oblique views of an 18-year-old patient with a Grolleau type III constricted breast deformity treated dual-plane saline breast augmentation and circumareolar mastopexy using 11.9 cm moderate profile implant with 320 cc saline and interlocking Gortex mastopexy. At 2 years following surgery the (D) AP, (E) lateral, and (F) oblique appearances of the breasts are shown.
Breast deformity in the female is highly variable, ranging from mild hypoplasia to aplasia. The typical breast deformity is marked by deficient parenchyma, high IMF, and a high and underdeveloped NAC. About 14% of breast aplasia may be accounted for by Poland’s syndrome.1 In 20% of cases, there are associated skeletal deformities leading to contour and rotational anomalies of the chest wall. Ribs are typically deformed and hypoplastic, particularly second through fifth ribs.
Poland’s syndrome is sometimes referred to as “acro-pectoral renal field defect” due to a high incidence of renal anomalies. The most common anomalies include duplication of the collecting system of unilateral renal agenesis.1 Associations between Poland syndrome and breast cancer and other malignancies have been documented.21-23 Breast hypoplasia does not preclude development of breast carcinoma. The most commonly associated syndromes are Mobius and Klippel-Feil syndromes.22
In both men and women, agenesis of the sternoclavicular head of pectoralis major causes a subclavicular hollowing as well as the absence of the anterior axillary fold. In women, the breast hypoplasia or aplasia leads to the most clinically significant deformity for which patients seek surgical correction. The Foucros classification of Poland’s syndrome assigns a morphologic grade according to the severity of the deformities.18
The etiology of Poland syndrome is unknown. The most popular theory is the subclavian artery disruption sequence, a vascular compromise event that occurs during critical sixth and seventh weeks of gestation. Reduction in blood flow at crucial periods or hypoplasia of the internal thoracic artery could lead to disruption in pectoralis major development, where hypoplasia of the branches of brachial artery during development could lead to symbrachydactyly.1
The classification of Poland’s syndrome is a difficult task due to the variability of the clinical picture. The Foucras classification,20 which classifies the Poland’s syndrome patient into mild, moderate, and severe categories, adequately describes clinical findings based on the degrees of thoracic deformity.20
Grade I: Minor deformity consisting of pectoralis major hypoplasia and moderate breast hypoplasia resulting in breast asymmetry in women but only slight chest wall asymmetry in men. Nipple areola is present, but often smaller and elevated. No skeletal abnormalities should be found in a class I patient.
Grade II: Moderate deformity with marked pectoralis major aplasia, hypoplasia of other chest wall muscles, moderate rib deformity, and marked chest wall deformity in men and women. Breast tissue is severely hypoplastic or absent and the nipple–areola is hypoplastic or absent. In men, grade II is best addressed with a customized chest wall implant, a latissimus dorsi (LD) or other free microvascular flap, with or without autologous fat injections. In women, the LD flap with tissue expansion and implant may be affective. Adjunctive autologous fat transfers can improve symmetry. Chest wall muscles affected may include the muscles to the pectoralis major, including the serratus anterior, LD, and external oblique.
Grade III: Severe deformities demonstrate aplasia of breast and pectoralis major as well as aplasia of other chest wall muscles, major bone, and cartilage anomalies with rib aplasia and sternal deformity, and major chest wall deformity in men and women. In both men and women, the treatment involves several stages. Complicating the reconstructive ladder, grade III patients also often have absent or severely hypoplastic LD muscles. Free flaps may be the best options such as contralateral free LD flap with an implant or a reconstruction based on abdominal tissues. Primary skin expansion may often be necessary. Outcomes are often less than satisfactory and serial fat injections help balance the soft tissue defect.
Surgical treatment of Poland’s syndrome focuses on improving function of the affected limb and improving chest wall appearance. The chest deformities of Poland syndrome rarely cause functional problems except in the most severe cases. Indications for thoracic surgical intervention include significant chest wall depression, inadequate protection of the mediastinum, or paradoxical movement of chest wall during respiration. Hand anomalies should be corrected prior to 1 year of age to maximize functional outcomes.
In most women, surgery for Poland’s syndrome is for the correction of breast aplasia or hypoplasia. In the absence of severe chest wall anomalies, waiting until after puberty affords the best chance of maximizing symmetry. In the Poland’s patients with severely hypoplastic NAC or athelia, nipple–areolar reconstruction is the appropriate final stage of reconstruction. Contralateral breast procedures may be performed for symmetry if desired, including reduction mammaplasty, mastopexy, or augmentation mammaplasty.
The challenges to aesthetic breast reconstructions in the Poland’s patient include the tight and unforgiving skin envelope, deficient subcutaneous tissue, high IMF, NAC malposition or absence, and adequacy of recipient vessels if a free flap reconstruction is desired. Often, a variety of treatment modalities must be combined to produce optimal results.
Expander and Implant Reconstruction
Grade I patients and many grade II patients may be treated with implants alone. A single-stage correction with a submuscular implant can produce suitable results. For implant reconstruction to be successful, the patient must have adequate soft tissue thickness on the affected side to cover and camouflage the implant. A tight skin envelope, high and tight IMF, and soft tissue deficiency can prove challenging for reconstruction with an implant alone and prompt tissue expander placement. With expansion of the upper chest skin, a malpositioned NAC may descend to a more symmetric position (Figure 64.5). Implants are frequently utilized in Poland syndrome but as with their use in other locations, they are not without drawbacks and morbidity.
Autologous Tissue Transfer
Pedicled LD myocutaneous flap reconstruction, with or without an accompanying implant, has been considered a mainstay of treatment in patients with moderate to severe chest wall deficiency and breast agenesis or hypomastia. The potential benefits are ease of harvest, replacement of pectoralis major with similar tissue, and relative ease compared with microsurgical reconstruction.
This strategy was used in the patient depicted in Figure 64.5A–D. She presented at age 18 with a right unilateral Poland’s syndrome with severe breast hypoplasia, including a superiorly malpositioned NAC and absence of the anterolateral axillary fold (Figure 64.5A). There was a deficiency of anterior chest wall and breast skin. The plan was for a two-stage reconstruction with the initial step being slow, gradual expansion of the breast and chest wall skin (Figure 64.5B). Subsequent to this the patient underwent removal of the expander along with harvest of the right LD muscle flap through the limited back and high axillary incisions. The LD flap was inset (Figure 64.5C) to the parasternal area and to the inframammary region through the inframammary incision used for the tissue expander placement. A 300 cc saline implant was placed beneath the LD flap. The patient is shown 1 year following the second stage of the reconstruction (Figure 64.5D) with an improvement in the appearance of her breasts.
The greatest limitation of this operation is that the LD is often deficient and or absent in the more severe Poland’s patients, leading to inadequate tissue bulk or deficient vascular supply. In addition, the harvest of LD flap may decrease the function in an upper extremity that may already have decreased function compared with the contralateral extremity.
TRAM flaps have been used frequently in Poland patients. Pedicled TRAMs may encumber the young, active patient with significant abdominal morbidity. Free microvascular TRAM flaps have been used successfully. Other free tissue transfer options include the deep inferior epigastric artery perforator (DIEP), the superior gluteal artery perforator, and superficial inferior epigastric artery flap for the treatment of moderate to severe Poland syndrome with breast hypoplasia or aplasia. Longaker et al.24 published a series of nine patients who underwent free tissue transfer for Poland syndrome chest wall reconstruction. Gautam et al.25 reported a series of 12 patients who underwent free perforator flap reconstructions. Thirty percent of these patients required revision surgery, but there was no flap loss. Most recently, Blondeel (personal communication) has combined the use of a DIEP with serial “lipofilling” of the transferred tissue flap to produce excellent results (Figure 64.5). It should be noted that high rates of subclavian arterial hypoplasia and anomalous venous return have been reported in Poland syndrome. Preoperative vascular imaging with a computed tomography angiogram or ultrasound may aid in planning a free flap reconstruction.
Autologous Fat Injection
Coleman’s technique of fat grafting is desirable due to low invasiveness and mobidity.17 Pinsolle and colleagues used autologous fat injections in a series of eight patients (mean age 25) with fat harvested from abdominal or trochanteric areas; fat necrosis occurred in one patient. They noted that fat injection can be used in conjunction with other procedures and is especially useful in filling the subclavicular hollowing seen in even the mildest cases of Poland’s patients.
At this particular time, serial fat transfer optimizes outcome when used as an adjunct to postmastectomy breast reconstruction. However, we would predict and anticipate that autologous adipose transplantation via injections will play a substantially larger role in the breast reconstructions performed in patients with breast hypoplasia accompanying Poland’s syndrome and also in the correction of other congenital and developmental breast deformities in the future.26
FIGURE 64.5. A. A 19-year-old patient with Poland’s syndrome exhibiting marked hypoplasia of the right breast and absent anterolateral breast fold and superiorly displaced nipple–areola complex (NAC). B. Initial stage of reconstruction with placement of tissue expander to modify skin envelope and achieve slight lowering of the NAC. C. Reconstruction of the subcutaneous tissue and anterolateral breast fold using a right latissimus dorsi muscle flap and placement of 260 cc saline implant beneath the flap. D. A 3-year postoperative AP view demonstrates correction of the deformity. (This case courtesy of Dr Julian J Pribaz.)
KEYS TO RECONSTRUCTION OF POLAND’S SYNDROME
In summary, the keys to reconstructing the breast in the patient with Poland’s syndrome are to carefully assess the severity of the patient’s breast deformity and accompanying soft tissue and skeletal deformity(ies). Particular attention is paid to the quantitative skin deficiency and also to the quality of the existing skin envelope. The surgeon should examine the patient for the presence of the LD muscle. If present and normally developed it may be an excellent way of providing skin and deep covering tissue. The surgeon should review options, including implant, autologous, or combined implant–autologous reconstructions, with the patient and explain which option is best. Autologous tissue techniques are becoming more common. Finally, the work of Khouri26 strongly suggests that the transfer of free autologous fat grafts will increase in popularity, especially if accompanied by external expansion (FN). This technique of “lipo-filling” or larger volume fat transfer can be combined with the microvascular transfer of tissue from the abdomen which can provide a recipient bed for the tissue.25
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