[一名五周龄女童的色素失禁症]

[Incontinentia pigmenti in a five-week-old girl].

作者信息

Wiederholt T, Poblete-Gutiérrez P, Ott H, Lehmann S, Grussendorf-Conen E I, Beermann T, Frank J

机构信息

Klinik für Dermatologie und Allergologie, Universitätsklinikum der RWTH Aachen.

出版信息

Hautarzt. 2004 Oct;55(10):999-1001. doi: 10.1007/s00105-004-0792-6.

DOI:10.1007/s00105-004-0792-6

PMID:15340706

Abstract

Shortly after birth, a five-week-old female infant developed small blisters and erythema that followed the lines of Blaschko on the upper and lower extremities as well as the abdomen. Histological examination confirmed the clinical presumptive diagnosis of incontinentia pigmenti. We discuss the dinical features, diagnosis, and the molecular genetic basis of this rare inherited skin disorder.

摘要

出生后不久，一名5周大的女婴在四肢及腹部出现沿布拉斯科线分布的小水疱和红斑。组织学检查证实了临床对色素失禁症的初步诊断。我们讨论了这种罕见遗传性皮肤病的临床特征、诊断及分子遗传学基础。