title: Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy.
abstract: Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited blistering skin disease characterized by nonscarring blistering and reticulated hyperpigmentation. It is most commonly due to a heterozygous point mutation, P25L, in the nonhelical V1 domain of keratin 5 (KRT5). Here we present a case of EBS-MP with early onset of reticulated hyperpigmentation during infancy due to a rare 1649delG mutation in the V2 domain of KRT5.
authors.affiliation: Department of Dermatology, Columbia University, New York, New York.
authors.forename: Lauren
authors.initials: L
authors.lastname: Geller
authors.forename: Leonard
authors.initials: L
authors.lastname: Kristal
authors.forename: Kimberly D
authors.initials: KD
authors.lastname: Morel
mesh_terms: D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D053555:Keratin-5 / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology*; D017354:Point Mutation; D012867:Skin / Q000473:pathology
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5