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A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF)

机译:患有原发性卵巢衰竭(POF)的通用性色盲症(DUH)的一例报告

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摘要

Dyschromatosis Universalis Hereditaria (DUH) belongs to a group of congenital diffuse reticulate pigmentary disorders characterised by both hypo and hyper pigmented macules. It is both hereditary and sporadic. A number of associated cutaneous and systemic diseases have been reported. The recent discovery of the mutation in ATP binding cassette protein, ABCB6 in DUH attempts to explain the reason behind the pigmentary abnormalities and varied associations. We add a new association by reporting a case of DUH with primary ovarian failure (POF) and hypothyroidism.
机译:普遍性色素沉着病(DUH)属于一组先天性弥漫性网状色素性疾病,其特征在于色素低下和色素沉着。它既是世袭的又是零星的。已经报道了许多相关的皮肤和全身疾病。 DUH中ATP结合盒蛋白ABCB6突变的最新发现试图解释色素异常和各种关联背后的原因。通过报告一例原发性卵巢衰竭(POF)和甲状腺功能减退的DUH病例,我们增加了一个新的关联。

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