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加拿大境内遗传性对称性色素沉着异常的罕见病例报告

A rare presentation of dyschromatosis symmetrica hereditaria in a Canadian context: A case report.

作者信息

Czyz Sonia, Jafarian Fatemeh, Holfeld Karen

机构信息

Department of Medicine, University of Calgary, Calgary, AB, Canada.

Division of Dermatology, Department of Medicine, University of Calgary, Calgary, AB, Canada.

出版信息

SAGE Open Med Case Rep. 2025 Jul 31;13:2050313X251358966. doi: 10.1177/2050313X251358966. eCollection 2025.

DOI:10.1177/2050313X251358966
PMID:40756745
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12317224/
Abstract

Inherited reticulate pigmentary disorders (IRPD) are a group of rare dermatologic conditions characterized by distinct reticulate patterns of hyperpigmentation and/or hypopigmentation of the skin. These conditions are considered genodermatoses caused by genetic mutations that are often inherited in affected families. IRPDs exhibit considerable phenotypic variability, ranging from having minimal or no systemic involvement to profound associations with neurocognitive, immunologic, and other organ abnormalities. Here, we discuss a rare case of dyschromatosis symmetrica hereditaria in an otherwise healthy 6-year-old boy. In this report, we aim to present the clinical manifestations of one subtype of reticulate pigmentary genodermatosis that, although uncommon in regions like Canada, immigration from other parts of the world, like Asia, highlights the need for awareness among Canadian physicians.

摘要

遗传性网状色素沉着障碍(IRPD)是一组罕见的皮肤病,其特征是皮肤出现独特的网状色素沉着和/或色素减退模式。这些疾病被认为是由基因突变引起的遗传性皮肤病,通常在受影响的家族中遗传。IRPD表现出相当大的表型变异性,从极少或没有全身受累到与神经认知、免疫和其他器官异常有密切关联。在此,我们讨论一名6岁健康男孩患对称性遗传性色素异常症的罕见病例。在本报告中,我们旨在呈现一种网状色素沉着遗传性皮肤病亚型的临床表现,尽管在加拿大等地区并不常见,但来自世界其他地区(如亚洲)的移民情况凸显了加拿大医生提高认识的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/edf6/12317224/400a02998f04/10.1177_2050313X251358966-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/edf6/12317224/400a02998f04/10.1177_2050313X251358966-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/edf6/12317224/400a02998f04/10.1177_2050313X251358966-fig1.jpg

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本文引用的文献

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Investigation of the pathogenesis of ADAR1 gene in dyschromatosis symmetrica hereditaria.探讨 ADAR1 基因在对称性色素异常症中的发病机制。
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Inherited Reticulate Pigmentary Disorders.遗传性网状色素沉着障碍。
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病例报告:伴有先天性心脏病和二尖瓣钙化的6型艾卡迪-古铁雷斯综合征及对称性遗传性色素沉着异常——由作用于RNA 1基因的腺苷脱氨酶纯合突变引起的表型变异
Front Pediatr. 2022 Jun 27;10:852903. doi: 10.3389/fped.2022.852903. eCollection 2022.
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A case of dyschromatosis symmetrica hereditaria with an associated eyelid hemangioma.一例伴有眼睑血管瘤的对称性遗传性色素异常症。
Int J Surg Case Rep. 2021 Feb;79:73-75. doi: 10.1016/j.ijscr.2021.01.012. Epub 2021 Jan 6.
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