Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome (Orphanet code 231742) is an extremely rare congenital condition characterized by the triad of epibulbar lipodermoids (benign fatty growths on the surface of the eye, typically at the outer corner), preauricular appendages (small skin tags or fleshy outgrowths located in front of the ear), and polythelia (supernumerary or accessory nipples). These features are present from birth and represent developmental anomalies affecting the skin, eyes, and associated ectodermal structures. The condition falls within the spectrum of disorders involving branchial arch and ectodermal developmental anomalies. The epibulbar lipodermoids are usually located at the temporal conjunctiva and are generally benign, though they may cause cosmetic concern or, in some cases, mild visual disturbance if they encroach on the visual axis. Preauricular appendages are typically unilateral or bilateral skin tags near the tragus of the ear and are usually asymptomatic. Polythelia, classified under ICD-10 code Q83.3, refers to the presence of extra nipples along the embryonic milk line. While each of these features can occur in isolation in the general population, their co-occurrence as a recognizable pattern defines this syndrome. Treatment is primarily symptomatic and cosmetic. Surgical excision may be considered for epibulbar lipodermoids if they affect vision or cause significant cosmetic concern, and preauricular appendages can be surgically removed if desired. Supernumerary nipples generally do not require treatment unless there are cosmetic concerns. Patients should undergo ophthalmologic evaluation and may benefit from genetic counseling. Given the rarity of this syndrome, long-term follow-up data and large cohort studies are limited.

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