title: Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
abstract: Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited disorder of the skin, which manifests as recurrent blistering, punctate palmo-plantar hyperkeratoses, and mottled pigmentation of the trunk and extremities. Previous reports have identified the P25L mutation within the non-helical V1 domain of keratin 5 as the unique cause of the disease. We found this mutation in the first Italian case of EBS-MP. The proband was heterozygous for the P25L mutation, which occurred de novo as this change was not detected in the peripheral blood DNA of the healthy parents. Our report extends the limited number of EBS-MP cases and gives further evidence that mutation P25L is responsible for this unusual phenotype.
authors.affiliation: Laboratory of Molecular and Cell Biology, IDI-IRCCS, via Monti di Creta 104, 00167 Rome, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Pascucci
authors.forename: Patrizia
authors.initials: P
authors.lastname: Posteraro
authors.forename: Cristina
authors.initials: C
authors.lastname: Pedicelli
authors.forename: Alessia
authors.initials: A
authors.lastname: Provini
authors.forename: Luigi
authors.initials: L
authors.lastname: Auricchio
authors.forename: Mauro
authors.initials: M
authors.lastname: Paradisi
authors.forename: Daniele
authors.initials: D
authors.lastname: Castiglia
mesh_terms: D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010859:Pigmentation Disorders / Q000235:genetics
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5