Excess breast volume or number

Excess breast volume or number (Orphanet code 180170) is a clinical grouping that encompasses conditions characterized by abnormalities in breast development, including macromastia (excessively large breasts) and supernumerary breasts or nipples (polymastia/polythelia). These conditions involve the mammary gland system and overlying skin and soft tissue structures. Supernumerary nipples or breast tissue typically develop along the embryonic milk line, which extends from the axilla to the groin on both sides of the body. Polymastia refers to the presence of accessory breast tissue, while polythelia refers specifically to extra nipples without underlying glandular tissue. Macromastia involves disproportionate enlargement of one or both breasts, which can cause significant physical symptoms including back pain, neck pain, shoulder pain, skin irritation, and postural problems. These conditions may occur as isolated findings or as features within broader genetic syndromes. Supernumerary nipples are relatively common in the general population, with estimates suggesting they occur in approximately 1–5% of individuals. Macromastia is less common and can present during puberty (virginal or juvenile hypertrophy), pregnancy, or in association with hormonal changes. Treatment depends on the specific condition and its severity. Surgical options include reduction mammoplasty for macromastia and excision of accessory breast tissue or nipples when they cause discomfort, cosmetic concern, or carry risk of malignant transformation. Hormonal therapies may be considered in select cases of macromastia. Patients with supernumerary breast tissue should be monitored, as accessory tissue can be subject to the same pathologies as normal breast tissue, including fibroadenomas and, rarely, carcinoma.

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