Barraquer–Simons Syndrome With Benign Infundibulocystic Proliferation

A white man with Barraquer–Simons syndrome presented with livid red, warty surfaced cysts on his finger and symmetric loss of buccal fat pads, leading to sunken cheeks. Laboratory tests were mostly normal, and he tested negative for several antibodies and viruses. Histologic examination revealed benign infundibulocystic proliferation. The patient had an IQ of 50, indicating mental retardation, and suspected sensory neural hearing loss, later diagnosed as otosclerosis. After 1.5 months of pimozide therapy, the cystic lesions resolved completely, and there was partial regeneration of the buccal fat pads.