PRIMARY CONGENITAL AND DEVELOPMENTAL DISORDERS

Hypoplasia and associated Conditions

Bilateral hypoplasia of the breast may occur in Turner's (XO) syndrome. Hypomastia, defined as breast size of 200 mg (mL) or less in an adult female, may occur in otherwise healthy women or in association with mitral valve prolapse.3 Acquired hypoplasia is associated with wasting diseases such as human immunodeficiency virus (HIV) infection, anorexia nervosa, and tuberculosis. Unilateral hypoplasia has been described in the Poland anomaly—unilateral absence of the sternocostal portion of the pectoralis major muscle, ipsilateral syndactyly, absence of axillary hair, and abnormal fingerprint patterns.4 Unilateral hypoplasia has also been described in association with large, irregularly shaped melanotic macules that cover the hypoplastic breast and wrap laterally onto the back. Basilar hyperpigmentation of melanocytes without significant melanocytic hyperplasia or atypia is seen on histologic examination.5 Morphea (localized scleroderma) of the chest wall in a prepubertal child may lead to deformity and hypoplasia of the breast in later years.6 Other congenital neural syndromes may be associated with breast hypoplasia.7-10

Rudimentary (absent or maldeveloped) nipples may be present as an isolated congenital defect or as a component of the scalp-ears-nipple (SEN) syndrome.11-13 This disorder is inherited in an autosomal dominant fashion. Cutaneous manifestations include aplasia cutis congenita of the scalp, protuberant cupped or folded external ears, and sparse axillary hair. The malformed nipple appears as a small dimple without pigmentation or recognizable structure; the breast may also fail to develop.

Hyperplasias and Hamartomas and associated Conditions

Polythelia (supernumerary nipples; Fig. 15-1) or polymastia (supernumerary breasts) develops along embryonic lines that stretch from the axillas to the inner thighs. Notably, vulvar lesions that previously were termed supernumerary nipples actually represent adenomas of vulvar apocrine—or mammary-like glands; the so-called milk lines do not cross the vulva. Most supernumerary breast tissue takes the form of insignificant, gently raised, pigmented papules. Histologically, these accessory structures may consist of nipple, areola, or glandular tissue in any combination. Microscopic sections of accessory mammary tissue are very similar to those of normal breast. The epidermis displays acanthosis with undulating papillomatosis and basal layer hyperpigmentation. In the dermis, smooth muscle bundles, mammary glands, and ducts are noted.

Becker's nevus is a hamartoma of pigmented epidermis, terminal hairs, and erector pili muscles usually found on the chest, shoulder, upper back, or upper arm. It is an androgen-dependent lesion that typically appears in males in the second and third decades but occasionally affects females. Rarely, this benign pigmented lesion is often mistaken clinically for a giant pigmented hairy melanocytic nevus. It is associated with abnormalities of the underlying musculoskeletal system, including spina bifida, scoliosis, localized lipoatrophy, and hypoplasia of the pectoralis muscle, which can lead to hypoplasia or compensatory hyperplasia of the breast.

Hyperplasia, adenomas, and rarely carcinomas can involve these tissues, as they do the breast proper. In a study from Japan, small benign adnexal polyps of the areola were reported to involve 4% of neonates. These small (1-mm), firm, pink papules contain hair follicles, eccrine glands, and vestigial sebaceous glands. Most wither rapidly and fall off shortly after birth.14 The rare familial syndrome of hereditary acrolabial telangiectasia, a type of hamartoma, consists of an extensive network of superficial, thin-walled vessels and variable proliferation of vessels in the deeper soft tissues. These superficial vessels impart a bluish hue to the lips, areolas, nipples, and nail beds, which may be mistaken for cyanosis at birth. Varicose veins and migraine headaches may develop in adulthood. No serious vascular or coagulative sequelae have been reported in these cases.15

Gynecomastia

Gynecomastia occurs in males and refers to inappropriate enlargement of the breasts. Drugs such as estrogen and marijuana can cause gynecomastia. Congenital anomalies such as Klinefelter's syndrome can also cause this condition. Gynecomastia is not associated with malignant transformation, although in Klinefelter's syndrome, the incidence of both gynecomastia and breast cancer are increased.

The histologic appearance of gynecomastia moves from an early active phase into an inactive quiescent phase. In the active phase, there is ductal proliferation and hyperplasia of stromal parenchyma accompanied by a periductal or diffuse mixed lymphoplasmacytic and mononuclear infiltrate. The ducts may develop papillary and cribriform patterns with a prominent myoepithelial layer. As the lesion develops, the inactive phase is attained; this phase is characterized by ductal epithelial atrophy and stromal fibrosis.

Figure 15-1 A, Accessory nipple is observed inferior to main nipple. B, Histologically the accessory nipple may consist of a ductal orifice as well as areolar-type smooth muscle fascicles.

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  • Category: Women's diseases