Suppr超能文献

非典型播散型 Galli-Galli 病:文献复习。

Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.

机构信息

Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia.

University of New South Wales, Sydney, New South Wales, Australia.

出版信息

Am J Dermatopathol. 2020 Jul;42(7):484-490. doi: 10.1097/DAD.0000000000001467.

Abstract

Galli-Galli disease (GGD) is a rare genodermatoses within the group of reticulated pigmentary disorders of the skin. Traditionally, its clinical presentation is identical to that of Dowling-Degos disease (DDD), with the additional feature of acantholysis on histopathological examination. We have reviewed the published cases of GGD to provide further support for the hypothesis that in fact, 2 phenotypes of GGD exist: the characteristic flexural GGD associated with KRT5 mutations and a disseminated variant with no mutation identified to date. A review of the literature revealed 53 reported cases of GGD. Fifteen atypical phenotype cases are described, and no KRT5 mutation has yet been identified. There is growing evidence that acantholysis is an underreported feature of DDD and that GGD and DDD are variations of the same disease, or in fact the same entity. This theory is supported by the identification of the c.418dupA missense mutation in both GGD and DDD. This review highlights that there is growing evidence that there are likely 2 clinical phenotypes of GGD with an associated genotypic correlation.

摘要

Galli-Galli 病(GGD)是一种罕见的皮肤网状色素沉着紊乱性遗传皮肤病。传统上,其临床表现与 Dowling-Degos 病(DDD)相同,组织病理学检查显示棘层松解。我们回顾了已发表的 GGD 病例,以进一步支持以下假说,即实际上 GGD 存在 2 种表型:与 KRT5 突变相关的特征性弯曲 GGD 和迄今尚未发现突变的播散性变异型。文献复习显示 GGD 有 53 例报道病例。描述了 15 例非典型表型病例,且尚未发现 KRT5 突变。越来越多的证据表明棘层松解是 DDD 被低估的特征,并且 GGD 和 DDD 是同一种疾病的变异型,或者实际上是同一实体。这一理论得到了在 GGD 和 DDD 中均发现 c.418dupA 错义突变的支持。本综述强调,有越来越多的证据表明 GGD 可能存在 2 种临床表型,与相关基因型存在关联。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验