Bitar George J, Herman Charles K, Dahman Mohammed I, Hoard Martin A
Department of Plastic Surgery, Albert Einstein College of Medicine, Bronx, New York, USA.
Am Fam Physician. 2002 Jun 15;65(12):2501-4.
Basal cell nevus syndrome is an autosomal dominant condition with complete penetrance and variable expressivity. It is characterized by five major components, including multiple nevoid basal cell carcinomas, jaw cysts, congenital skeletal abnormalities, ectopic calcifications, and plantar or palmar pits. Other features include a host of benign tumors, ocular defects, and cleft lip and palate. Guidelines for diagnosis include a family history, careful oral and skin examinations, chest and skull radiographs, panoramic radiographs of the jaw, magnetic resonance imaging of the brain, and pelvic ultrasonography in women.
基底细胞痣综合征是一种常染色体显性遗传病，具有完全外显率和可变表达性。它的特征包括五个主要方面，即多发性痣样基底细胞癌、颌骨囊肿、先天性骨骼异常、异位钙化以及掌跖凹陷。其他特征还包括一系列良性肿瘤、眼部缺陷以及唇腭裂。诊断指南包括家族史、仔细的口腔和皮肤检查、胸部和颅骨X线片、颌骨全景X线片、脑部磁共振成像以及女性盆腔超声检查。
