遗传性皮肤病及其在儿童皮肤病学中的意义。

The genodermatoses and their significance in pediatric dermatology.

作者信息

Alper J C

出版信息

Dermatol Clin. 1986 Jan;4(1):45-54.

Abstract

This article presents a detailed discussion of six genetic disorders with major cutaneous manifestations that might commonly be seen by the dermatologist or pediatrician. These include neurofibromatosis, tuberous sclerosis, xeroderma pigmentosum, incontinentia pigmenti, incontinentia pigmenti achromians, and Down's syndrome. The appearance of each disease at birth is described, and all manifestations of each entity are discussed in detail. Disorders with different inheritance patterns were chosen so that important genetic principles could be elucidated. The article concludes with a general discussion of genetic counseling, which draws upon the six genetic diseases for specific examples of important concepts.

摘要

本文详细讨论了六种主要有皮肤表现的遗传性疾病，皮肤科医生或儿科医生可能经常会见到。这些疾病包括神经纤维瘤病、结节性硬化症、着色性干皮病、色素失禁症、无色素性色素失禁症和唐氏综合征。描述了每种疾病在出生时的表现，并详细讨论了每种疾病的所有症状。选择具有不同遗传模式的疾病以便阐明重要的遗传学原理。文章最后对遗传咨询进行了一般性讨论，并以这六种遗传性疾病为例阐述了重要概念的具体实例。