Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date.
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.
Shurman
Daniel
D
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA, and Department of Clinical Genetics, Helsinki University Central Hospital, Finland.
Losi-Sasaki
Jacqueline
J
Grimwood
Ronald
R
Kivirikko
Sirpa
S
Tichy
Elizabeth
E
Uitto
Jouni
J
Richard
Gabriele
G
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000150:complications* / Q000235:genetics*; D005260:Female; D006630:Hispanic or Latino; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010859:Pigmentation Disorders / Q000150:complications* / Q000235:genetics*