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PMID: 7516400 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Hailey-Hailey disease is not allelic to Darier's disease.

The Journal of investigative dermatology ·Vol. 102 ·No. 6 ·1994-06-00 ·Pages 992-3

Welsh EA, Ikeda S, Peluso AM, Bonifas JM, Bare JW, Woodley DT, Epstein EH

Abstract

Hailey-Hailey (Familial Benign Chronic Pemphigus) Disease is a rare autosomal dominant disorder characterized by blisters caused by suprabasal epidermal acantholysis. Another autosomal dominant skin disease, Darier's disease, has clinical and histologic features which overlap those of Hailey-Hailey disease and recently has been mapped to chromosome 12q23-q24.1. We have used linkage analysis to test whether or not a mutation in this region might also underlie Hailey-Hailey disease. This analysis, using polymorphic loci tightly linked to Darier's disease, excluded this region as the site for the disease-causing mutation in two kindreds affected with Hailey-Hailey disease.

MeSH Terms
Adolescent Adult Alleles Carrier Proteins/genetics Chromosome Mapping Chromosomes, Human, Pair 12 Cytoskeletal Proteins/genetics Darier Disease/genetics Desmoplakins Family Health Female Genetic Linkage Genotype Humans Hyaluronan Receptors Keratins/genetics Male Membrane Proteins/genetics Middle Aged Mutation Pedigree Pemphigus, Benign Familial/genetics Receptors, Cell Surface/genetics Receptors, Lymphocyte Homing/genetics
Chemicals
Carrier Proteins Cytoskeletal Proteins Desmoplakins Hyaluronan Receptors Membrane Proteins Receptors, Cell Surface Receptors, Lymphocyte Homing loricrin Keratins
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Welsh E A
Department of Dermatology, Stanford University School of Medicine, California.
Ikeda S
Peluso A M
Bonifas J M
Bare J W
Woodley D T
Epstein E H
Article Info
Journal
The Journal of investigative dermatology
Abbr.
J Invest Dermatol
ISSN
0022-202X
Published
1994-06-00
Pages
992-3
Language
English
Region
United States
NLM ID
0426720
Subset
IM
Grants
NIAMS NIH HHS · AR41120 · United States
NIAMS NIH HHS · AR41700 · United States
NIAMS NIH HHS · P01 AR4015 · United States
Corrections
CommentIn
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