title: Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.
abstract: Bullous congenital ichthyosiform erythroderma is an unusual type of inherited ichthyosis by mutations in the genes that encode K1 and K10. We report the case of a girl with typical clinical and histopathologic findings of bullous congenital ichthyosiform erythroderma, who was found to have a new mutation in KRT10 gene, Glu445Lys at position 445, affecting the 2B region of the KRT10 protein, the end of the rod domain, where many other keratin mutations associated with hereditary skin disease have been reported. This new mutation contributes to add to the catalog of bullous congenital ichthyosiform erythroderma mutations known.
authors.affiliation: Department of Dermatology, Hospital General Universitario de Alicante, Alicante, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Betlloch
authors.forename: Anna
authors.initials: A
authors.lastname: Lucas Costa
authors.forename: Javier
authors.initials: J
authors.lastname: Mataix
authors.forename: Maria
authors.initials: M
authors.lastname: Pérez-Crespo
authors.forename: Irene
authors.initials: I
authors.lastname: Ballester
mesh_terms: D000225:Adenine; D001483:Base Sequence; D004247:DNA; D005260:Female; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D053550:Keratin-10 / Q000235:genetics*; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D013206:Staphylococcal Scalded Skin Syndrome / Q000150:complications
chemical_list: C507493:KRT10 protein, human; D053550:Keratin-10; D006147:Guanine; D004247:DNA; D000225:Adenine