Ichthyosis - Etiology, diagnosis, and management

被引:103
作者
DiGiovanna, JJ
Robinson-Bostom, L
机构
[1] Brown Med Sch, Dept Dermatol, Div Dermatopharmacol, Providence, RI 02903 USA
[2] Rhode Isl Hosp, Dept Pathol, Providence, RI 02902 USA
[3] NCI, Basic Res Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA
基金
美国国家卫生研究院;
关键词
D O I
10.2165/00128071-200304020-00002
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis and genetic counseling. Congenital autosomal recessive ichthyosis (CARI) usually presents at birth, often as a collodion baby. CARI can progress into any one of a spectrum of disorders. Lamellar ichthyosis is characterized by dark, plate (armor)-like scale. This disease is often caused by mutations in the gene encoding the enzyme transglutaminase 1. Congenital ichthyosiform erythroderma is another phenotype within CARI, marked by generalized redness and fine white scale. Epidermolytic hyperkeratosis is an autosomal dominant disorder characterized by hyperkeratosis and blistering, and at least six clinical phenotypes have been described. It may be due to mutations in the gene encoding the intermediate filament proteins keratin 1 and 10.
引用
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页码:81 / 95
页数:15
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