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 Printable version |
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date |
European Journal of Dermatology. Volume 16, Number 2, 132-5, March-April 2006, Genes and skin
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 Free Article
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Author(s) : Daniel Shurman, Jacqueline Losi-Sasaki, Ronald Grimwood, Sirpa Kivirikko, Elizabeth Tichy, Jouni Uitto, Gabriele Richard |
Summary : Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP), characterized by trauma-induced blisters, distinct pigmentary changes of the trunk and extremities, and acral hyperkeratotic papules, is almost exclusively caused by a common KRT5 missense mutation affecting the V1 region of keratin 5. We studied the first Hispanic family, the largest single generation of affected family members in which 5 out of 10 siblings inherited EBS-MP from their affected father, as well a second large pedigree, the first reported of Finnish ancestry. In both families, the heterozygous transition mutation 74C→T of the keratin 5 gene, which results in amino acid substitution P25L, completely co-segregated with the EBS-MP phenotype. |
Keywords : blistering skin diseases, epidermolysis bullosa simplex, genodermatoses, keratin mutations, mechanobullous skin diseases |
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