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[儿童期致死性皮肤松解综合征:厚皮性多指(趾)畸形的一个病因]

[KID syndrome: a cause of pachydermatoglyphia].

作者信息

Stambouli O Boudghene, Belbachir A

机构信息

Service de Dermato-Vénéréologie, Centre Hospitalo Universitaire Dr T. Damerdji, Tlemcen, Algérie.

出版信息

Ann Dermatol Venereol. 2003 Dec;130(12 Pt 1):1143-5.

Abstract

INTRODUCTION

The KID syndrome is a rare ectodermal dysplasia associating erythrokeratodermia, deafness and keratitis. Other disorders such as sensitivity to infections or hypohidrosis may be associated. Pachydermatoglyphia is characterized by diffuse hyperkeratosis in which the dermatoglyphe crests are accentuated in thickness and height.

CASE REPORT

We report the case of a KID syndrome in a young girl, born of non-consanguine parents and without any familial context. The classical elements of this dysplasia were present: erythrokeratoderma with dryness and roughness of the whole tegument, plicatured pachydermia of the knees, facial erythema, grooves around the mouth, hypotrichosis of the lashes and eyebrows, deafness, and ophthalmologic involvement. Involvement of the palms was characterized by the pachydermatoglyphic aspect.

DISCUSSION

In this case report, the palmar keratoderma corresponded to the original description of pachydermatoglyphia and we consider that the KID syndrome should be integrated as a possible etiology of pachydermatoglyphia.

摘要

引言

KID综合征是一种罕见的外胚层发育不良,伴有红斑角化病、耳聋和角膜炎。可能还伴有其他病症,如对感染敏感或少汗症。厚皮性皮纹症的特征是弥漫性角化过度,其中皮纹嵴在厚度和高度上都更加明显。

病例报告

我们报告了一名非近亲结婚父母所生且无家族病史的年轻女孩患KID综合征的病例。这种发育不良的典型症状都有:全身皮肤干燥粗糙的红斑角化病、膝盖处有褶皱的厚皮症、面部红斑、口周沟纹、睫毛和眉毛稀少、耳聋以及眼部受累。手掌受累表现为厚皮性皮纹症外观。

讨论

在本病例报告中,掌部角化病与厚皮性皮纹症的最初描述相符,我们认为KID综合征应被视为厚皮性皮纹症的一种可能病因。

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