Lipoid proteinosis

被引：111

作者：

Hamada, T

机构：

[1] Kurume Univ, Sch Med, Dept Dermatol, Kurume, Fukuoka 830, Japan

[2] St Thomas Hosp, St Johns Inst Dermatol, Dept Cell & Mol Pathol, Guys Kings Coll & St Thomas Hosp Med Sch, London SE1 7EH, England

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2002年 / 27卷 / 08期

关键词：

D O I：

10.1046/j.1365-2230.2002.01143.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox-like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline-like material and disruption/reduplication of basement membrane around blood vessels and at the dermal-epidermal junction. Recently, lipoid proteinosis was mapped to 1q21 and pathogenetic loss-of-function mutations were identified in the extracellular matrix protein 1 gene (ECM1). This article reviews the molecular basis of lipoid proteinosis and reassesses the clinico-pathological features of this disorder in light of the new genetic discoveries.

引用

页码：624 / 629

页数：6

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