Congenital abnormalities

Congenital absence of the breast – complete absence of both the breast and nipple (amastia). Breast hypoplasia is more common and some degree of asymmetry can be seen in many women.

Accessory nipples – caused by failure of the regression of the primitive milk line, present in 1% of people; can be excised if problematic.

Accessory breast – polymastia.

Developmental disorders

Excessive breastenlargement – minor degrees of enlargement can occur in infancy related to maternal oestrogens.

Male breast enlargement occurs in 30% of boys at puberty. Usually reverses spontaneously.

Gynaecomastia can occur in juveniles with hormonal abnormalities or hormone-secreting tumours. Other causes: hypogonadism, liver disease, hormone-secreting tumours and drugs e.g. spironolactone, cimetidine, isoniazid, omeprazole, finasteride, marijuana, thyroxine and digoxin.

Disorders of cyclical change

Benign mammary dysplasia – this usually affects pre-menopausal women and is characterized by pre-menstrual breast nodularity and pain commonly in the upper outer quadrant. If there is concern that a nodule may be malignant then a mammogram and a FNAC (fine needle aspiration and cytology) should be performed. This is an aberration of normal development and involution (ANDI) and includes the following conditions:

1. Fibrosis

2. Adenosis – multiplication of acini

3. Cyst formation – macro or microcysts

4. Epitheliosis – hyperplasia of epithelium

5. Papillomatosis – papillomatous overgrowth within the ducts.

Management – usually reassurance, analgesia, a well-fitting bra and evening primrose oil may help. Occasionally drugs such as danazol, tamoxifen or bromocriptine may be used. In very rare circumstances a mastectomy may be considered for symptomatic treatment.

Cystic disease – cysts occur commonly in women who are approaching the menopause and aspiration should be attempted.