Neonatal Breast Abnormalities

The condition in which breasts enlarge in the newborn period is neonatal breast hypertrophy. This is quite common in term infants and can occur as a result of elevated circulating maternal endogenous steroid hormones in late gestation. As maternal estrogen levels fall, prolactin levels can increase and the breasts can produce a clear or cloudy (milklike) nipple discharge (“witch’s milk”). Repeated manipulation of the breast can exacerbate the condition. On occasion, the hypertrophy is associated with mastitis caused by a staphylococcal or streptococcal infection; antibiotics should be administered.

Precocious Puberty

Premature thelarche is usually an isolated condition but it may be the first symptom of precocious puberty. Precocious puberty occurs in 14-18% of girls with premature thelarche (Chapter 556). Serial examinations, with particular emphasis on growth velocity, secondary sex characters such as pubic hair, pigmentation of the labia or areola, or vaginal bleeding are imperative to identify precocious puberty. Unless there are associated signs of precocious puberty, the parents should be reassured and the child should be followed.

Amastia

Complete absence of the breast, or amastia, is rare and is thought to occur from lack of formation or obliteration of the milk line. Amastia is usually unilateral and can be congenital or associated with systemic disorders (e.g., malnutrition, Crohn disease) or endocrine disorders (e.g., congenital adrenal hyperplasia, gonadal dysgenesis, hypogonadotropic hypogonadism). It can be associated with anomalies of the underlying mesoderm, such as abnormal pectoralis muscles seen in Poland syndrome (aplasia of the pectoralis muscles, rib deformities, webbed fingers, and radial nerve aplasia) (Fig. 545-1). Amastia or hypomastia can also be iatrogenic, resulting from injuries sustained during thoracotomy, chest tube placement, radiotherapy, severe burns, and inappropriate biopsy of the breast bud. Treatment is surgical correction.

Figure 545-1 Preoperative frontal view of a patient with left breast hypoplasia secondary to Poland syndrome.

(From Sadove AM, van Aalst JA: Congenital and acquired pediatric breast anomalies: a review of 20 years’ experience, Plast Reconstr Surg 115:1039–1050, 2005.)

Polymastia and Polythelia

Supernumerary breast tissue (polymastia) and accessory nipples (polythelia) occur in approximately 1-2% of the population (Fig. 545-2). The abnormally placed tissue can be seen anywhere along the milk line but is usually noted on the chest, upper abdomen, or just inferior to the normally positioned breast. An association has been made between polythelia and anomalies of the urinary and cardiovascular system. Surgical excision of the accessory breasts or nipple is not usually needed. Resection of accessory tissue may be warranted if the patient has pain or for cosmetic reasons.

Figure 545-2 Accessory nipple located inferior to the left breast.

(From Sadove AM, van Aalst JA: Congenital and acquired pediatric breast anomalies: a review of 20 years’ experience, Plast Reconstr Surg 115:1039–1050, 2005.)

Breast Asymmetry and Hypomastia

Some degree of asymmetry is normal in women, and it may be more pronounced during puberty while the breasts are developing. Hypoplasia of the breasts varies in degree from a nearly total absence of breast tissue to well-formed breasts that are considered by the patient to be too small. There are several causes for poor or absent breast development. The onset of breast development may be delayed with normal secondary sex characters; the breasts develop slowly but are normal in all other respects; a patient’s family history might include late breast development. Other causes include ovarian dysfunction, hypothyroidism, and chest wall irradiation or surgery. Hypoplastic breast tissue can also be associated with a tuberous breast anomaly. Treatment depends on the underlying cause. Patients with mild asymmetry and with no other associated pathology should be reassured. Surgical correction is an option for women with marked asymmetry.

Juvenile or Virginal Hypertrophy

Spontaneous massive growth of the breasts during puberty and adolescence is thought to be the result of excessive end-organ sensitivity to gonadal hormones. The underlying cause, if any, should be determined and removed (Table 545-1). When growth is extreme it is termed macromastia or gigantomastia. It is more commonly bilateral, often occurs over a brief period, and most commonly affects adolescent girls. Physical and psychologic problems can affect posture and quality of life. Strong emotional support should be provided as this can affect an adolescent’s self-esteem at a vulnerable time in her psychologic development. Management should be individualized and may range from reassurance or the use of supportive brassieres to reduction mammoplasty. Surgery should be delayed until late adolescence to allow complete breast development. Medical therapy is available to slow down breast growth in extreme cases until surgery can be performed. Surgical intervention often necessitates relocation of the nipple, which can result in decreased sensation and altered lactation.

Galactorrhea

To test for galactorrhea, obtain cytologic evaluation of the discharge fluid by Sudan (fat) stain. Serum pregnancy testing and prolactin and thyroid levels are obtained to rule out the presence of a thyroid abnormality, a pituitary prolactinoma, and pregnancy (in the postpubertal adolescent). If the prolactin level is elevated, visual field studies and a head MRI might reveal presence of a pituitary adenoma (Chapter 554). Treatment is directed by results of history, physical exam, and lab studies. Patients should be instructed to avoid nipple stimulation and stop any offending drugs. Hypothyroidism should be treated and prolactin tumors managed with appropriate medical or surgical care. Treatment of galactorrhea (not thyroid related) consists primarily of dopamine agonists such as bromocriptine or cabergoline. Surgical intervention, usually transsphenoidal hypophysectomy, is rarely required.

Bloody Discharge

In adolescent athletes, bloody discharge may be due to chronic nipple irritation (jogger’s nipple), discharge from the ducts of Montgomery (on the edge of the areola, not through the nipple) or duct ectasia. Cytologic assessment should be performed. Surgical consultation for a mass is indicated because intraductal breast papillomas have occurred in adolescents.

Peripubertal Masses

Initial breast development at the onset of thelarche can be asymmetric and thus mistaken for a “mass.” The breast bud is palpable in these cases and should be distinguishable. Such asynchronous thelarche should be recognized to avoid biopsy and potential injury to the maturing breast. If there is any question, ultrasound can be used to evaluate for a mass. Unilateral thelarche has also been reported as a side effect of cimetidine and is reversible with stopping the drug.

Common Adolescent Breast Masses

The differential diagnosis for breast masses in the adolescent patient is seen in Table 545-3. The patient should be questioned about the variation in symptoms with the menstrual cycle, associated symptoms such as nipple discharge, recent trauma to the breast, family history of breast masses or cancer, and history of chest radiation or malignancy. Because breast cancer in the adolescent is extremely rare, masses can be expectantly managed for extended periods with little concern for malignancy in this population.

The most common solid mass seen in adolescent girls is the fibroadenoma. Fibroadenomas are most often located in the upper outer quadrant of the breast and are more common in African-American patients. The average size is 2-3 cm, and 10-25% of patients have multiple lesions. The physical examination is usually diagnostic because these lesions are well circumscribed, rubbery, mobile, and not tender. In equivocal cases, an ultrasound may be helpful in making the diagnosis. Mammography is not indicated in the adolescent patient.

Fibroadenomas can develop because of a local exaggerated response to estrogen stimulation and they can enlarge during the menstrual cycle. These lesions may be safely watched for at least 2 menstrual cycles, and some investigators suggest observation until adulthood. About 10% of fibroadenomas regress spontaneously. The option of expectantly managing the patient until adulthood should be considered because the risk of primary cancer is very low in this population. If expectant management is chosen, serial ultrasounds may be done to ensure that the mass does not have malignant characteristics on imaging and that it is not enlarging or changing in contour. About 4% of fibroadenomas grow, and so fine-needle aspiration or excision is recommended when a mass is enlarging, grows >5 cm (due to the risk of giant fibroadenoma or cystosarcoma phylloides), or the mass is causing anxiety to the patient or her family.

Cysts are very common masses seen in the pediatric breast. Cysts vary in size over the course of a menstrual cycle, so a patient with a possible cyst should be re-examined a few weeks after the initial evaluation to see if the mass is still present. If a mass persists, then it may be imaged by ultrasonography or aspirated with a needle to evaluate if it truly is a cyst. Aspirated fluid that is clear may be discarded. Bloody fluid and other aspirated material should be sent for cytology. Cystic lesions that resolve with aspiration should be reevaluated in 3 mo. If they recur they should be evaluated with sonography.

Imaging of Breast Masses

Because the dense breast tissue of the adolescent obstructs the visualization of a palpable mass, mammography is not advised for this age group. Ultrasonography is the imaging modality of choice for breast abnormalities in the pediatric population. Color Doppler ultrasound can be useful in evaluating breast abnormalities such as fibroadenomas or abscesses.