LINKAGE OF THE EPIDERMOLYTIC HYPERKERATOSIS PHENOTYPE AND THE REGION OF THE TYPE-II KERATIN GENE-CLUSTER ON CHROMOSOME-12

被引：48

作者：

BONIFAS, JM

BARE, JW

CHEN, MA

LEE, MK

SLATER, CA

GOLDSMITH, LA

EPSTEIN, EH

机构：

[1] UNIV CALIF SAN FRANCISCO, SCH MED, DEPT DERMATOL, SAN FRANCISCO, CA 94143 USA

[2] UNIV CALIF BERKELEY, SCH PUBL HLTH, BERKELEY, CA 94720 USA

[3] UNIV ROCHESTER, SCH MED, DEPT DERMATOL, ROCHESTER, NY 14627 USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1992年 / 99卷 / 05期

关键词：

D O I：

10.1111/1523-1747.ep12658061

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) is a severe, generalized, lifelong disease of the skin. As in epidermolysis bullosa simplex, intraepidermal blisters and clumping of keratin intermediate filaments are characteristic. We report here linkage of the inheritance of this disease to the region of chromosome 12q containing the genes encoding type II keratins. This suggests that keratin gene mutations may underlie this complex hyperproliferative and hyperkeratotic phenotype.

引用

页码：524 / 527

页数：4

共 44 条

[1] HISTOPATHOLOGIC CONCEPT OF EPIDERMOLYTIC HYPERKERATOSIS [J].