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先天性皮纹缺失。

Congenital absence of dermatoglyphs.

作者信息

Límová M, Blacker K L, LeBoit P E

机构信息

Department of Dermatology, University of California, San Francisco 94143-0316.

出版信息

J Am Acad Dermatol. 1993 Aug;29(2 Pt 2):355-8. doi: 10.1016/0190-9622(93)70195-y.

Abstract

Congenital absence or unusual patterns of human dermatoglyphs (fingerprints) occur in several syndromes that are rare and poorly understood. The abnormalities of dermatoglyphs fall into four categories: complete absence, ridge hypoplasia, ridge dissociation, and ridges-off-the-end. Complete congenital absence of ridges is an exceedingly rare syndrome that consists of neonatal blisters and milia, adult traumatic blistering and fissuring, absence of sweating, contracture of digits, and absence of dermatoglyphs on the hands and feet. The syndrome is inherited in an autosomal dominant pattern, and only two kindreds have been described in the literature. We describe a newly identified patient and kindred with findings similar to the previously reported cases and review the clinical and histopathologic findings of this syndrome.

摘要

先天性人类皮肤纹理(指纹)缺失或异常模式出现在几种罕见且了解甚少的综合征中。皮肤纹理异常可分为四类:完全缺失、嵴发育不全、嵴分离和末端无嵴。完全先天性无嵴是一种极其罕见的综合征,其特征包括新生儿水疱和粟丘疹、成人创伤性水疱和皲裂、无汗、手指挛缩以及手足皮肤纹理缺失。该综合征以常染色体显性模式遗传,文献中仅描述了两个家系。我们描述了一名新确诊的患者及其家系,其表现与先前报道的病例相似,并回顾了该综合征的临床和组织病理学表现。

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