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Kindler综合征:两例报告。

Kindler syndrome: report of two cases.

作者信息

Mendes Luciana, Nogueira Lisiane, Vilasboas Virginia, Talhari Carolina, Talhari Sinésio, Santos Mônica

机构信息

Tropical Medicine Foundation of the Amazonas, Manaus, AM, Brazil.

出版信息

An Bras Dermatol. 2012 Sep-Oct;87(5):779-81. doi: 10.1590/s0365-05962012000500020.

Abstract

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosensitivity, poikiloderma, cutaneous atrophy and periodontitis.

摘要

Kindler综合征是一种罕见的常染色体隐性遗传性皮肤病,其特征为创伤性水疱、进行性皮肤异色症和不同程度的光敏性。2003年,在定位于20p12.3染色体的KIND1基因中发现了功能丧失性突变。在本文中,我们报告了两例近亲结婚父母所生儿童患Kindler综合征的病例,患儿表现为肢端水疱、光敏性、皮肤异色症、皮肤萎缩和牙周炎。

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