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弥漫性躯体血管角质瘤(法布里病)。

Angiokeratoma corporis diffusum (Fabry disease).

作者信息

Karen Julie K, Hale Elizabeth K, Ma Linglei

机构信息

Department of Dermatology, New York University School of Medicine, USA.

出版信息

Dermatol Online J. 2005 Dec 30;11(4):8.

Abstract

A 23-year-old man presented for cosmetic consultation for symmetrically distributed, red-to-purple, hyperkeratotic papules that had been present since early childhood. Histopathologic features included ectasia of upper dermal vessels with overlying hyperkeratosis. Serum alpha-galactosidase A level was diminished. Fabry disease is an x-linked recessive disorder in which deficiency of the lysosomal enzyme alpha-galactosidase A leads to progressive accumulation of globotriaosylceramide in vital organs. The complexity and rarity of this disease mandates a multidisciplinary approach that includes initiation of enzyme replacement therapy.

摘要

一名23岁男性因自幼出现的对称分布的、从红色到紫色的角化过度丘疹前来进行美容咨询。组织病理学特征包括真皮上部血管扩张伴上方角化过度。血清α-半乳糖苷酶A水平降低。法布里病是一种X连锁隐性疾病,其中溶酶体酶α-半乳糖苷酶A的缺乏导致球三糖基神经酰胺在重要器官中进行性蓄积。这种疾病的复杂性和罕见性要求采用多学科方法,包括启动酶替代疗法。

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