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线状和旋涡状痣样过度黑素沉着病

Linear and whorled nevoid hypermelanosis

ORPHA:79150疾病

定义 英文原文(暂无中文)

A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.

别名

LWNH

基本事实

发病年龄
婴儿期、新生儿期
患病率
<1 / 1 000 000

外部标识与链接

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
  • 中文病名:Orphanet 中文包,冻结于 2020-06-01
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)