Hailey-Hailey disease is not allelic to Darier's disease.
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.
Welsh
E A
EA
Department of Dermatology, Stanford University School of Medicine, California.
Ikeda
S
S
Peluso
A M
AM
Bonifas
J M
JM
Bare
J W
JW
Woodley
D T
DT
Epstein
E H
EH
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D003598:Cytoskeletal Proteins / Q000235:genetics; D007644:Darier Disease / Q000235:genetics*; D051180:Desmoplakins; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D018960:Hyaluronan Receptors; D007633:Keratins / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics; D016201:Receptors, Lymphocyte Homing / Q000235:genetics
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D051180:Desmoplakins; D018960:Hyaluronan Receptors; D008565:Membrane Proteins; D011956:Receptors, Cell Surface; D016201:Receptors, Lymphocyte Homing; C064554:loricrin; D007633:Keratins