毛囊素
Birt-Hogg-Dubé综合征
医学
病理
错构瘤
痣
种系突变
皮肤病科
气胸
解剖
突变
生物
黑色素瘤
癌症研究
基因
遗传学
作者
Sanah Basrai,David S. Cassarino
标识
DOI:10.1097/dad.0000000000002980
摘要
Abstract: Multiple fibrofolliculomas (FFs) are a major feature for the rare autosomal dominant disorder Birt–Hogg–Dubé syndrome. Individuals with this condition carry a mutation in the FLCN (folliculin) gene that increases their risk for pneumothorax and renal cell carcinoma. Solitary FFs do not have a genetic component to suggest BHD syndrome. However, they are rare, benign tumors with epithelial and connective tissue features, primarily reported on the face, head, and neck. Here, we present the case of 46-year-old woman with a solitary FF on the back coexisting with a nevus. Histological analysis confirmed the diagnosis of FF, characterized by an irregular follicular structure with epithelial cords and an associated fibromyxoid stroma. This case contributes to the limited reports of solitary FFs, highlighting the rare occurrence and unique association with a nevus.
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