Genetic Linkage Between the Collagen Type VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features

Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled ker...

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Published inJournal of investigative dermatology Vol. 104; no. 5; pp. 803 - 805
Main Authors Naeyaert, Jean Marie, Nuytinck, Lieve, De Bie, Sylvia, Beele, Hilde, Kint, André, De Paepe, Anne
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.05.1995
Subjects
Adult
Aged
Alleles
Child
Collagen - genetics
Epidermolysis Bullosa Dystrophica - genetics
Female
Genes, Dominant
Genetic Linkage
Haplotypes
Humans
Leg Dermatoses - etiology
Leg Dermatoses - genetics
Lichenoid Eruptions - etiology
Lichenoid Eruptions - genetics
Male
Middle Aged
Pedigree
Phenotype
Polymorphism, Genetic
Tibia
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Summary:Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled keratosis lichenoides chronica. Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1. Two-point linkage analysis with two intragenic polymorphisms (PvuII, AluI) in COL7A1 was performed. Strong genetic linkage between the disease in this family and COL7AI was demonstrated by a lod score of 44.5 (theta = 0) for the AluI polymorphism. The observed intrafamilial variability of clinical phenotypes contradicts the presently proposed classification of dominantly inherited dystrophic epidermolysis bullosa.
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ISSN:0022-202X
1523-1747
DOI:10.1111/1523-1747.ep12606999