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化脓性汗腺炎与多林-德戈斯病共存时的PSENEN基因突变

PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease.

作者信息

Peter Dincy C V, Smith Frances J D, Wilson Neil J, Danda Sumita

机构信息

Department of Dermatology, Venereology and Leprosy, Christian Medical College, Vellore, Tamil Nadu, India.

Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.

出版信息

Indian Dermatol Online J. 2020 Sep 28;12(1):147-149. doi: 10.4103/idoj.IDOJ_218_20. eCollection 2021 Jan-Feb.

DOI:10.4103/idoj.IDOJ_218_20
PMID:33768038
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7982026/
Abstract

Hidradenitis suppurativa is a chronic relapsing disease with multiple abscesses, nodules, and scars in the apocrine bearing areas. Dowling-Degos is a rare autosomal dominant genodermatosis characterized by multiple hyperpigmented macules or papules in reticulate pattern, affecting mainly the flexures. We report a case of coexisting hidradenitis suppurativa and Dowling-Degos disease in a 31-year-old male in whom mutation analysis revealed a splice site mutation c.62-1G>T.

摘要

化脓性汗腺炎是一种慢性复发性疾病，在顶泌汗腺分布区域有多个脓肿、结节和瘢痕。Dowling-Degos病是一种罕见的常染色体显性遗传性皮肤病，其特征为呈网状分布的多个色素沉着斑或丘疹，主要累及皮肤褶皱处。我们报告了1例31岁男性同时患有化脓性汗腺炎和Dowling-Degos病的病例，对其进行的突变分析显示存在剪接位点突变c.62-1G>T。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eed/7982026/0ed3b0a40c42/IDOJ-12-147-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eed/7982026/49d7fffb5784/IDOJ-12-147-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eed/7982026/490ab580872e/IDOJ-12-147-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eed/7982026/0ed3b0a40c42/IDOJ-12-147-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eed/7982026/49d7fffb5784/IDOJ-12-147-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eed/7982026/490ab580872e/IDOJ-12-147-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eed/7982026/0ed3b0a40c42/IDOJ-12-147-g003.jpg

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J Clin Invest. 2017 Apr 3;127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13.
2
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.POGLUT1 基因突变导致常染色体显性遗传的 Dowling-Degos 病。
Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.
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Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association?
加利-加利病：全面的文献综述
Dermatopathology (Basel). 2024 Feb 7;11(1):79-100. doi: 10.3390/dermatopathology11010008.
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Indian J Dermatol. 2023 Mar-Apr;68(2):141-147. doi: 10.4103/ijd.ijd_995_21.
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