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遗传性泛发性色素异常症伴肾衰竭

Dyschromatosis universalis hereditaria with renal failure.

作者信息

Rojhirunsakool Salinee, Vachiramon Vasanop

机构信息

Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Case Rep Dermatol. 2015 Apr 1;7(1):51-5. doi: 10.1159/000381174. eCollection 2015 Jan-Apr.

DOI:10.1159/000381174
PMID:25969678
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4427145/
Abstract

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and hyperpigmented macules. We report a case of DUH with unexplained childhood-onset renal failure. The association between DUH and renal failure is yet to be proven by further studies.

摘要

泛发性遗传性色素异常症（DUH）是一种罕见的常染色体显性遗传性皮肤病，通常在儿童期出现，其特征为色素沉着异常，有色素减退和色素沉着斑。我们报告一例伴有不明原因儿童期肾衰竭的泛发性遗传性色素异常症病例。泛发性遗传性色素异常症与肾衰竭之间的关联尚有待进一步研究证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5df/4427145/7710ee1757ff/cde-0007-0051-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5df/4427145/066065579654/cde-0007-0051-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5df/4427145/aaa29d30f442/cde-0007-0051-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5df/4427145/7710ee1757ff/cde-0007-0051-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5df/4427145/066065579654/cde-0007-0051-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5df/4427145/aaa29d30f442/cde-0007-0051-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5df/4427145/7710ee1757ff/cde-0007-0051-g03.jpg

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本文引用的文献

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Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.全基因组连锁分析、外显子组测序及功能分析确定ABCB6为遗传性泛发性色素异常症的致病基因。
PLoS One. 2014 Feb 3;9(2):e87250. doi: 10.1371/journal.pone.0087250. eCollection 2014.
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Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.与常染色体显性遗传性全身性色素异常症相关的 ABCB6 新突变。
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Thrombocytopenia in dyschromatosis universalis hereditaria.
遗传性全身性色素异常伴尿道下裂：一种罕见的关联。
Indian Dermatol Online J. 2020 Mar 9;11(2):243-245. doi: 10.4103/idoj.IDOJ_143_19. eCollection 2020 Mar-Apr.
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J Clin Diagn Res. 2016 Mar;10(3):WD01-2. doi: 10.7860/JCDR/2016/17525.7368. Epub 2016 Mar 1.
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