[皮肤黏膜透明变性与埃勒斯-当洛综合征。一种罕见的综合征组合]

[Hyalinosis cutis et mucosae and Ehlers-Danlos syndrome. A rare combination of syndromes].

作者信息

König I, Hausser I, Anton-Lamprecht I, Schröter R, Petzoldt D

机构信息

Hautklinik der Ruprecht-Karls-Universität, Abteilung Dermatologie I mit Poliklinik, Heidelberg.

出版信息

Hautarzt. 1994 Feb;45(2):108-12. doi: 10.1007/s001050050049.

DOI:10.1007/s001050050049

PMID:7512082

Abstract

We report on a 7-year-old boy suffering from two rare genetic diseases, namely hyalinosis cutis et mucosae and Ehlers-Danlos syndrome. The diagnosis was finally established after 7 years, by means of light and electron microscopy and immunohistology. Therefore, this report deals with the typical clinical and morphological features of both genetic disorders.

摘要

我们报告了一名患有两种罕见遗传病的7岁男孩，即皮肤黏膜透明变性和埃勒斯-当洛综合征。最终在7年后通过光镜、电镜及免疫组织学检查确诊。因此，本报告阐述了这两种遗传病的典型临床及形态学特征。