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Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.

07:00 EST 22nd December 2017 | BioPortfolio

Summary of "Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes."

Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype-phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens-raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.

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This article was published in the following journal.

Name: Pediatric dermatology
ISSN: 1525-1470
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