As described previously, the newborn breast bud enlarges during the mini-puberty of early infancy ( Fig. 71.1 ). This phase seldom lasts longer than a few months; however, this persistent breast enlargement may be confused for a mass and may be a source of concern to parents and other clinicians. As it is not pathologic, it should not be excised or biopsied as this can cause permanent damage to the developing breast.

This 3-month-old girl with neonatal hypertrophy is undergoing an operation for another indication. Breast enlargement in early infancy is normal and regresses without treatment.

Extra nipples, occasionally with a surrounding areola, may develop anywhere along the milk line from axilla to pubis in up to 5% of children, most commonly on the chest below the actual breast ( Fig. 71.2 ). Ectopic breast tissue may be found in the axilla and patients may present to the surgery clinic with an “axillary mass.” Unsightly or painful structures may be removed by surgery or liposuction. ^,

This 6-year-old girl has polythelia. The accessory areola is inferior to the normal areola.

Breast asymmetry is common ( Fig. 71.3 ). When profound differences in size develop, cosmetic surgery, including augmentation of the smaller breast with an implant or reduction and mastopexy of the larger breast, may be indicated once both breasts are fully developed at age 17–18. Use of tissue expanders may be necessary if differences are extreme.

An 11-year-old was referred for right breast enlargement. On clinical exam, both breasts were normal, but the right one was larger. Endocrinological evaluation was also normal. Asymmetric breast development and size is not unusual.

Complete absence of the breast tissue and nipple-areola complex is called amastia, while absence of breast tissue only is called amasia. Unilateral amastia may be caused by Poland’s syndrome, a range of malformations characterized by varying degrees of hypoplasia and aplasia of the breast and nipple, pectoralis major and sternocleidomastoid muscles, thorax, and hand. Reconstruction strategies depend on the extent of breast hypoplasia and the degree of pectoral and thoracic maldevelopment. The most profound defects will require reconstruction with a prosthesis and chest-wall augmentation using a variety of flap techniques.

Incisions for a central venous catheter, chest tube, and drainage of a breast abscess may interfere with later breast growth and development. Extreme care must be taken when placing these incisions, particularly in premature infants in whom the breast bud may be barely visible. The nipple should be marked before the infant chest is prepped and draped to avoid inadvertent injury due to an incision. Thoracotomy and chest wall reconstruction for pectus deformities may interfere with breast development in older children.

Bilateral breast hypoplasia suggests delayed puberty, defined clinically by the absence or incomplete development of secondary sexual characteristics by age 13 years in girls and age 14 years in boys. Hypogonadism is the absence of physical signs of puberty by age 18 in both genders. Delayed puberty requires evaluation by a pediatric endocrinologist for ovarian failure, including gonadal dysgenesis, congenital adrenal hyperplasia, varieties of intersex disorders, and hypogonadotrophism.

Atrophy of the breast may result from weight loss from any cause. Hypothalamic suppression and hypoestrogenism may complicate eating disorders, further retarding breast growth. In an otherwise well-nourished adolescent, breast atrophy should prompt a search for endocrine disorders that result in low estrogen or increased androgens.

The differential diagnosis of breast enlargement in female patients changes with age and is summarized in Table 71.1 . Premature thelarche is breast development before 6 years of age. It is isolated if it occurs without pubic/axillary hair growth, vaginal mucosal estrogenization, and a linear growth spurt. It is unilateral in 50% of cases. It has a peak incidence between 6 months and 2 years and resolves in more than half of patients. Premature thelarche is not known to increase the risk of breast disorders later in life.

Premature thelarche may be associated with precocious puberty. Precocious puberty has a peak incidence later than isolated premature thelarche, between 5 and 8 years. Adrenarche (onset of androgen production, responsible for the appearance of pubic and axillary hair, acne, body odor, and linear growth acceleration) and gonadarche (onset of gonadal function, signaled by ovulation and menarche in female adolescents) signal that precocious puberty is occurring. About 20% of girls with premature thelarche go on to develop precocious puberty during follow-up. Both premature thelarche and precocious puberty require pediatric endocrinology evaluation. The management of precocious puberty has been revolutionized with the development of GnRH analogs for the long-term suppression of gonadotropins.

The definition of the age of normal pubertal timing continues to be a matter of intense debate. The decline in the age of menarche has stabilized at 12.5 years, with the lower range of the onset of puberty (thelarche) set at 6 years for African American girls and 7 for white girls. Using thelarche is problematic because the increasing prevalence of obesity complicates the assessment of the onset of breast development.

Drug, toxic, and environmental causes of premature thelarche should be considered. Several compounds have been implicated in the disorder, including xenoestrogens (compounds that bind to the estrogen receptor); phytoestrogens (compounds in plants); environmental toxins (pesticides, cosmetics, and packaging material); and estrogens in poultry, cosmetics, and hair products. Early exposure to such products may have implications for the later development of breast cancer.

Juvenile or virginal breast hypertrophy is a rare disorder of the breast and is thought to arise from exaggerated responses to pubertal hormonal fluxes. Both stroma and ducts are hypertrophic. The breast growth is exaggerated, and the sheer weight of the breast may cause ischemia and necrosis. Tamoxifen may ameliorate the abnormal growth, but in most cases reduction mammoplasty is required. Subsequent resections may be necessary even with postoperative tamoxifen therapy. There is no documented association between juvenile hypertrophy and breast cancer.

Unilateral hypertrophy, though common, may produce enough asymmetry so that the patient is self-conscious of her appearance. Differences in size may return if surgery is performed too early and the breasts continue to grow after operation, so thoughtful decision-making regarding timing of surgery is imperative. This is often performed in collaboration with plastic surgeons.

Gynecomastia is the benign proliferation of the male breast, including glands, stroma, and fat ( Fig. 71.4 ). Male breast enlargement occurs physiologically in the neonate, adolescent, and elderly. Gynecomastia that occurs after infancy and before puberty warrants an urgent referral to a pediatric endocrinologist to evaluate for feminizing adrenal and testicular tumors, an array of endocrine and metabolic disorders that end with excess estrogen or deficient androgen, and chromosomal defects that have feminized phenotypes. Review of medications and possible exogenous sources of environmental agents is mandatory, because of the long list of drugs associated with gynecomastia ( Table 71.2 ). Pubertal status and testicular size are a necessary part of the physical examination. In patients with gynecomastia that appears before puberty, laboratory indices include appropriate tests for hypogonadism, thyroid, liver, and kidney disease. Specific hormone levels include morning serum testosterone and LH, FSH, prolactin estrogen, and human chorionic gonadotropin (hCG).

(A) This teenager has gynecomastia, which was causing him discomfort as well as having negative psychosocial ramifications. (B) On the operating table, the enlarged breast tissue was removed, and a nice cosmetic appearance achieved.

Up to 70% of boys exhibit physiologic or pubertal gynecomastia, often associated with pain and tenderness. It first appears between 10 and 12 years of age, with the highest prevalence at 13–14 years, corresponding to Tanner stage 3 or 4. Within 1–3 years, up to 90% of boys have regression of their breast enlargement and resolution of discomfort.

Pubertal gynecomastia has an early proliferative or florid stage, with active ductal epithelial proliferation, inflammatory infiltration-increased stromal fibroblasts, and enhanced vascularity-changes that may also explain breast pain and tenderness. The cellular activity then subsides, and the stroma begins to undergo fibrosis and hyalinization. Endocrine and growth factor mechanisms remain obscure, as testosterone and estrogen profiles of boys with gynecomastia are not revealing. Prolactin and local tissue factors, such as leptin, have been implicated.

On palpation, true gynecomastia is a disc of rubbery tissue arising concentrically beneath and around the nipple and areola. This distinguishes it from pseudogynecomastia, in which adipose tissue beneath the breast causes prominence of the area beneath the true breast. A thorough history and physical examination, especially of the testes, is sufficient in adolescent boys with 6-month follow-up examinations. Pubertal gynecomastia generally resolves within 1 year. In otherwise healthy, pubertal boys with gynecomastia and who are undergoing normal adolescent development, no further workup is necessary.

A directed endocrine and oncological workup is necessary for gynecomastia that occurs well before the onset of puberty, a rapid increase in breast size, macrogynecomastia >4 cm in diameter, or pubertal gynecomastia that persists longer than 1 year. Drugs should be discontinued, if possible, and the patient reexamined in 1 month. Imaging of the testes and adrenals is necessary if a tumor is suspected.

Indications for surgery include severe pain, tenderness, or embarrassment sufficient to interfere with the patient’s activities. Subcutaneous mastectomy through a periareolar incision and liposuction are both acceptable. Invasive breast cancer has never been found in male pediatric gynecomastia cases, but ductal carcinoma in situ has been reported in gynecomastia specimens. ^,

Fat necrosis in childhood almost always arises from trauma. In about half of cases the child does not recall an injury. Though rare, blunt trauma to the breast can occur due to shoulder restraints in motor vehicle accidents, nonaccidental trauma, or direct blows to the chest during sports. Hemorrhage in fat leads to cystic degeneration and scarring, a process that may resolve completely or leave a cyst or a nodular mass. A hyperechoic lesion on ultrasonography (US) in the setting of recent injury is almost always benign fat necrosis. These lesions may be painful, but rarely require excision. Breast hematomas may be dramatic, but infrequently require drainage. Routine therapy for soft tissue injury is usual sufficient for breast trauma.

Infections of the breast of a neonate primarily affect the neonatal breast before ductal involution later in infancy. Peak incidence is in the fourth and fifth weeks of life and affects girls more often than boys, in a 1.7:1 ratio. Staphylococcus is the causative organism in >90% of cases. Streptococcus , Enterobacter , Salmonella , and Escherichia coli have also been reported. The skin and nipple are red in simple mastitis with swelling and edema surrounding the area (Fig. 71.5A ). Erythema and swelling are seen in nearly all cases. In almost all cases, mastitis in neonates responds to antibiotics and warm packs to the affected breast. Initial antibiotic therapy must cover methicillin-resistant Staphylococcus aureus (MRSA). An abscess may develop in up to 50% of cases of mastitis. Fluctuance is diagnostic of an abscess and can be confirmed with an ultrasound. Drainage of an abscess must avoid damage that may cause breast deformity later in adolescence. Needle aspiration is a prudent first step, with repeated aspirations if signs of inflammation improve. When an abscess requires incision and drainage, the incision must be made in an area away from the developing breast bud (see Fig. 71.5B). Infants suffering mastitis have a risk of breast abnormalities in adolescence, including residual scarring on US and an absolute decrease in breast size relative to the opposite breast.

(A) A right breast abscess is seen in a 1-month-old girl with redness and induration surrounding the breast bud. (B) Incision and drainage were performed through a limited incision at the inferior aspect of the abscess to avoid injuring the breast tissue under the nipple.

Fibrocystic breast changes are often described as “lumpy” breasts and can cause breast pain and tenderness, often around the time of menstruation. Adolescent girls with fibrocystic changes or breast pain may be referred to pediatric surgeons due to concern for a mass. When no discrete lesion is identified on physical exam, an ultrasound can better assess for smaller lesions and reassure families. In the absence of a lesion, no surgery is indicated, and treatment is supportive.

Diet (low-fat, high-carbohydrate); caffeine, chocolate, and methylxanthine restrictions; flaxseed products; vitamin E; and evening primrose oil have all been suggested as adjunctive measures but have not undergone formal study. ^,

Galactorrhea is lactation not related to pregnancy. The six etiologic groups are pituitary disease, hypothalamic disease, neurogenic causes, medications, endocrine causes, and idiopathic. The most common neurogenic cause is breast and nipple stimulation. Prolactinoma, the most common hypothalamic cause of galactorrhea in adults, is rare in childhood and adolescence. Cessation of oral contraceptives, polycystic ovary, adrenal tumors, and gonadal tumors may cause galactorrhea in adolescents. Galactorrhea in boys is always abnormal, with a prolactinoma being the most common cause.

Bloody nipple discharge in the adult can be a symptom of an underlying malignancy, but in children and adolescents it is almost always benign and usually self-limited. The most common causes of bloody nipple discharge in the pediatric population are mammary duct ectasia and intraductal papillomas.

Mammary duct ectasia occurs when there is persistent obstruction of the duct with fibrosis, inflammation, and possible bacterial overgrowth. The inflammation can cause bleeding and subsequent infection. An ultrasound can, in some cases, help make the diagnosis of mammary duct ectasia with findings that include dilated ducts filled with debris or tubular structures and associated cystic lesions. Culture of discharge is positive for Staphylococcus in about one-fourth of cases, so drainage should be cultured and treated if positive. The bleeding from duct ectasia is often self-limited, but it may be treated with surgical excision if persistent ( Fig. 71.6 ).

(A) Bloody and green discharge from a 5-month-old boy is seen. (B) Multiple subareolar epithelial cysts, which were causing the drainage, were removed.

Intraductal papillomas are an abnormal proliferation of ductal epithelial cells with epithelium-covered fibrovascular cores. Though most commonly encountered in women ages 35–55, they can be seen rarely in pediatric patients. These lesions are often nonpalpable, but cytology of the drainage may demonstrate epithelial cells and secure the diagnosis. Surgical excision is curative.

Blood or blood-tinged fluid can also occur from nipple trauma. Local irritation or chafing from prolonged exercise (particularly running or biking) can cause bleeding from the nipple that can be prevented with lubrication or skin coverage with bandages.