遗传性硬化性异色皮病

Hereditary sclerosing poikiloderma.

作者信息

Greer K E, Weary P E, Nagy R, Robinow M

出版信息

Int J Dermatol. 1978 May;17(4):316-22. doi: 10.1111/j.1365-4362.1978.tb06085.x.

DOI:10.1111/j.1365-4362.1978.tb06085.x

Abstract

Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved in producing the cutaneous lesions which are so striking clinically and also evident histologically. Investigational studies included a blood chemistry screen, chromosome analyses, and skin biopsies evaluated by routine stains as well as by electron microscopy and direct immunofluorescence. No mechanism for the production of the clinical and histological changes in the dominantly inherited disorder was found.

摘要

对三名患有遗传性硬化性皮肤异色症的患者进行了研究，以寻找任何线索来解释产生皮肤病变的机制，这些病变在临床上非常显著，在组织学上也很明显。研究性检查包括血液化学筛查、染色体分析，以及通过常规染色、电子显微镜和直接免疫荧光评估的皮肤活检。在这种常染色体显性遗传病中，未发现产生临床和组织学变化的机制。