title: A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
abstract: Annular epidermolytic ichthyosis has recently been delineated as a distinct clinical phenotype within the spectrum of epidermolytic keratinization disorders. The pattern of inheritance of the disorder is consistent with an autosomal dominant mode of transmission. Here we report a second incidence of this disorder in a family with two affected generations. The proband suffered from bullous ichthyosis and had bouts of disease activity associated with the development of numerous annular and polycyclic erythematous, hyperkeratotic plaques on the trunk and the proximal extremities. Histologic examination showed the typical pathology of epidermolytic hyperkeratosis, and ultrastructural analysis revealed abnormal keratin filament networks and tonofilament clumping with a perinuclear distribution. Molecular analysis revealed a novel tandem CG to GA 2-bp mutation in the same allele of keratin 10 in affected individuals, resulting in an arginine to glutamate substitution at residue 83 (R83E) of the 2B helical segment. We conclude that annular epidermolytic ichthyosis should be considered a variant of bullous congenital ichthyosiform erythroderma.
authors.affiliation: Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, U.S.A.
authors.forename: G Y
authors.initials: GY
authors.lastname: Joh
authors.forename: H
authors.initials: H
authors.lastname: Traupe
authors.forename: D
authors.initials: D
authors.lastname: Metze
authors.forename: D
authors.initials: D
authors.lastname: Nashan
authors.forename: M
authors.initials: M
authors.lastname: Huber
authors.forename: D
authors.initials: D
authors.lastname: Hohl
authors.forename: M A
authors.initials: MA
authors.lastname: Longley
authors.forename: J A
authors.initials: JA
authors.lastname: Rothnagel
authors.forename: D R
authors.initials: DR
authors.lastname: Roop
mesh_terms: D000328:Adult; D000483:Alleles; D001706:Biopsy; D005121:Extremities / Q000473:pathology; D005260:Female; D014644:Genetic Variation; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007633:Keratins / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D012867:Skin / Q000648:ultrastructure
chemical_list: D007633:Keratins