Tanabe Ryo, Fujii Katsunori, Miyashita Toshiyuki, Uchikawa Hideki, Endo Mamiko, Sugita Katsuo, Arai Hidee, Kohno Yoichi
Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba.
No To Hattatsu. 2009 Jul;41(4):253-7.
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.
我们调查了25例日本戈林综合征患者的临床表现。我们揭示了日本戈林综合征患者主要五种症状的发生率，即基底细胞癌（BCCs）（20%）、颌骨囊肿（80%）、掌跖凹陷（64%）、大脑镰钙化（64%）和肋骨异常（44%）。与美国、英国和澳大利亚此前的研究相比，日本戈林综合征患者的基底细胞癌发生率显著较低，且本研究中未发现髓母细胞瘤。我们还发现了诊断标准中未包括的轻微症状，即空蝶鞍、脂肪瘤、溃疡性结肠炎、胼胝体发育不全和心脏纤维瘤。我们得出结论，主要症状以外的临床表现差异很大，种族差异可能影响戈林综合征患者基底细胞癌的发生。
