局灶性真皮发育不全综合征。病例报告及文献综述。

Focal dermal hypoplasia syndrome. Case report and literature review.

作者信息

Hall E H, Terezhalmy G T

出版信息

J Am Acad Dermatol. 1983 Sep;9(3):443-51. doi: 10.1016/s0190-9622(83)70157-x.

Abstract

Focal dermal hypoplasia is a rare mesoectodermal hypoplasia found primarily in females. It is characterized by linear hypoplasia of the skin and tumors of fat or lipomatous lesions. There are significant defects of the skeleton, dental structures, eyes, soft tissues, and skin. A rare example of a young man with this syndrome is reported, and a review of 125 cases from the literature is presented.

摘要

局灶性真皮发育不全是一种罕见的中胚层外胚层发育不全，主要见于女性。其特征为皮肤的线性发育不全以及脂肪肿瘤或脂肪瘤样病变。骨骼、牙齿结构、眼睛、软组织和皮肤存在显著缺陷。本文报告了一名患有该综合征的年轻男性的罕见病例，并对文献中的125例病例进行了综述。