Barraquer–Simons Syndrome With Benign Infundibulocystic Proliferation

The document described a case of Barraquer–Simons syndrome in a white male patient who presented with soft papules on his finger and a notable loss of buccal fat pads, leading to sunken cheeks. Laboratory tests showed no significant anomalies, and the patient tested negative for several antibodies and viruses. Histological examination revealed benign infundibulocystic proliferation. The patient had an IQ of 50, indicating mental retardation, and was suspected of having sensory neural hearing loss, later diagnosed as otosclerosis. After 1.5 months of pimozide therapy, the cystic lesions resolved, and there was partial regeneration of the buccal fat pads.