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神经纤维瘤病与土肥网状肢端色素沉着症:一例报告

Neurofibromatosis and reticulate acropigmentation of Dohi: a case report.

作者信息

Tan H H, Tay Y K

机构信息

National Skin Centre, Singapore.

出版信息

Pediatr Dermatol. 1997 Jul-Aug;14(4):296-8. doi: 10.1111/j.1525-1470.1997.tb00962.x.

DOI:10.1111/j.1525-1470.1997.tb00962.x
PMID:9263313
Abstract

A 13-year-old boy had progressive pigmentary changes affecting his limbs which began when he was 9 months of age. He also had a history of café au lait macules on his trunk since birth which were becoming more numerous. The diagnosis of reticulate acropigmentation of Dohi (dyschromatosis symmetrica hereditaria) and neurofibromatosis type 1 (NF-1) was made on the basis of the clinical features. To our knowledge, this is the first report of these two conditions occurring in the same patient.

摘要

一名13岁男孩自9个月大时起四肢出现进行性色素沉着变化。他自出生以来躯干就有咖啡斑病史,且咖啡斑数量逐渐增多。根据临床特征诊断为多希网状肢端色素沉着症(对称性遗传性色素异常症)和1型神经纤维瘤病(NF-1)。据我们所知,这是这两种病症同时出现在同一患者身上的首例报告。

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引用本文的文献

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Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism.遗传性对称性色素异常症伴皮肤红斑狼疮和甲状腺功能亢进症。
Int Med Case Rep J. 2017 May 2;10:149-152. doi: 10.2147/IMCRJ.S132489. eCollection 2017.
2
A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.一个负责对称性色素异常症(DSH)的基因座定位于6号染色体q24.2 - q25.2区域。
Am J Hum Genet. 2003 Aug;73(2):377-82. doi: 10.1086/377007. Epub 2003 Jun 12.