痣样基底细胞癌综合征一例

痣样基底细胞癌综合征是一种罕见的常染色体显性遗传病，以泛发性皮肤基底细胞癌和多器官发育异常为主要临床特征。本文报告1例痣样基底细胞癌综合征患者，并结合相关文献对该病的发病率、发病机制、诊断标准、治疗方法等进行讨论。

A case of nevoid basal cell carcinoma syndrome

Abstract] Objective To report a case of nevoid basal cell carcinoma syndrome and discuss its incidence, pathogenesis, clinical features and treatment. Methods Skin specimens were obtained from the patient and examined by histopathology , and relevant literatures were reviewed. Results A 48-year-old female presented with a 40-year history of with decades of crusted macules, varying in color from pink to brown and ranging in size from 0.5 to 3 mm in diameter, together with palmar keratotic plaques. Histopathology of skin specimens on the chest, abdomen and back revealed the presence of nests and lobules of basophile cells orderly settled, with a great amount of melanin pigmentation. The patient is mending after 3-month treatment with oral retinoid therapy . Conclusions The case is diagnosed as nevoid basal cell carcinoma syndrome by clinical features and histopathology findings, and was effectively treated by retinoic acid.