痣样基底细胞癌综合征1例报道

A case report of nevoid basal cell carcinoma syndrome

痣样基底细胞癌综合征(nevoid basal cell carcinoma syndrome,NBCCS)是一种少见的常染色体显性遗传病,临床表现多达一百多种,主要临床表现为皮肤基底细胞癌,颌骨牙源角化囊性瘤(odontogenic keratocystic tumor, OKC),手掌及脚底的过度角化、点状凹陷,颅骨异常,小脑镰钙化,眶距增宽,面部畸形,巨头巨脑畸形,唇腭裂等。本文报告1例痣样基底细胞癌综合征,并结合相关文献对该病的发病机制、发病率、临床表现、诊断、治疗方法等进行讨论。

Nevoid basal cell carcinoma syndrome(NBCCS) is a rare autosomal dominant hereditary disease with more than 100 clinical manifestations, whose main clinical manifestations are skin basal cell carcinoma, odontogenic keratocystic tumor(OKC), excessive keratosis, pitting of the palms and soles of the feet, skull abnormality and falciparum calcification, orbital spacing widening, facial deformity, giant brain deformity, cleft lip and palate, etc. A case of nevoid basal cell carcinoma syndrome is reported in this paper. The pathogenesis, incidence, clinical manifestation, diagnosis and treatment of the disease are discussed in combination with relevant literature.