Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype

被引：10

作者：

Brick, Katherine ^{[1
]}

Hand, Jennifer L. ^{[1
,2
,3
]}

Frankel, Amy S. ^{[4
]}

Siegel, Dawn H. ^{[5
]}

Thomas, Kelly B. ^{[1
]}

el-Azhary, Rokea ^{[1
]}

Krol, Alfons ^{[6
]}

机构：

[1] Mayo Clin, Dept Dermatol, Rochester, MN 55905 USA

[2] Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA

[3] Mayo Clin, Dept Pediat, Rochester, MN 55905 USA

[4] Providence Med Grp, Portland, OR USA

[5] Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA

[6] Oregon Hlth & Sci Univ, Portland, OR 97201 USA

来源：

PEDIATRIC DERMATOLOGY | 2012年 / 29卷 / 06期

关键词：

COL7A1; DOMINANT; SUBSTITUTION; DERMOLYSIS; MUTATIONS; NEWBORN; GENE;

D O I：

10.1111/j.1525-1470.2012.01786.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

A defect in type VII collagen causes dystrophic epidermolysis bullosa (DEB). The pruriginosa variant (DEB-Pr) is unique because its initial presentation may be delayed until adolescence or adulthood, and its predominant feature is scarring and pruritus without the characteristic skin fragility of DEB. We describe three families with multiple affected members in which DEB-Pr shows an autosomal-dominant inheritance pattern. All affected individuals were examined, and three previously unreported COL7A1 mutations were identified.

引用

页码：732 / 737

页数：6

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