title: Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation.
abstract: Ichthyosis with confetti (IWC) was first described as ichthyose en confettis and subsequently as congenital reticular ichthyosiform erythroderma. Because of the development of hundreds to thousands of pale, normal-appearing confetti-like spots during childhood, the disease was named IWC. Patients with IWC show erythroderma, prominent scaling and palmoplantar keratoderma. Our female index patient was described in 1990 as the fourth patient reported worldwide; at that time she did not show any confetti-like spots. She was periodically examined at our clinic from birth until adulthood; hence we are able to describe the natural course of IWC in detail for the first time. We furthermore identified two novel deletions in KRT10, one of them leading to a frameshift and consequently to an arginine tail of keratin 10. Our report is the first independent confirmation of the KRT10 gene defect and revertant mosaicism mechanism in patients with IWC and it expands the clinical findings.
authors.affiliation: Department of Biomedicine, Research Group of Dermatology, University Hospital Basel, 4031 Basel, Switzerland. burgerb@uhbs.ch
authors.forename: B
authors.initials: B
authors.lastname: Burger
authors.forename: I
authors.initials: I
authors.lastname: Spoerri
authors.forename: M
authors.initials: M
authors.lastname: Schubert
authors.forename: C
authors.initials: C
authors.lastname: Has
authors.forename: P H
authors.initials: PH
authors.lastname: Itin
mesh_terms: D000328:Adult; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D053550:Keratin-10 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D053550:Keratin-10