Clinical manifestations in 25 Japanese patients with Gorlin syndrome

: We investigated the clinical manifestations of 25 Japanese patients with Gorlin syndrome. We revealed the frequencies of major five symptoms in Japanese Gorlin syndrome patients, i.e., basal cell carcinomas (BCCs) (20%), jaw cysts (80%), palmar and plantar pits (64%), calcification of the falx cerebri (64%), and rib abnormalities (44%). Compared with the previous studies in the United States, the United Kingdom, and Australia, Japanese Gorlin syndrome patients showed a significantly lower rate of BCCs, and no medulloblastomas in this study. We also revealed minor symptoms which were not included in the diagnostic criteria, i.e., empty sellas, lipomas, ulcerative colitis, dysgenesis of the corpus callosum, and cardiac fibromas. We conclude that clinical manifestations other than major symptoms are quite variable, and racial differences may influence the occurrence of BCCs in Gorlin syndrome patients.