布鲁克-斯皮格勒综合征
基因病名称(英)
Brooke-Spiegler syndrome
别名(英)
BSS,SBS,Spiegler-Brooke syndrome
别名
BSS,SBS,Spiegler-Brooke 综合征
统计
reviewed:1; annotated:0
交叉引用
605041,C1857941,D018280
描述(英)
An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life.
描述
一种常染色体显性遗传病，其特征是出现多个皮肤附属器肿瘤，例如圆柱瘤、毛上皮瘤和螺旋腺瘤。这些肿瘤通常位于头部和颈部区域，出现在成年早期，并在一生中逐渐增大大小和数量。