title: Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.
abstract: Epidermolytic hyperkeratosis is an unusual type of ichthyosis. This inherited keratinization disorder is characterized clinically by erythema, blistering, and peeling shortly after birth. It may resolve and be replaced with thick scaling. It can lead to life-threatening complications, such as sepsis. Histologically, there is a hyperkeratosis and vacuolar degeneration. Genetically, this is an autosomal dominant disease with complete penetrance; however, 50% are spontaneous mutations. The clinical phenotype is a result of alterations in the gene(s) for keratin 1 and/or 10. We review this disorder and its therapy, which is mainly symptomatic with emollients and retinoids.
authors.affiliation: Dermatology, UMDNJ-New Jersey Medical School, Newark, New Jersey 07103-2714, USA.
authors.forename: Nicole L
authors.initials: NL
authors.lastname: Lacz
authors.forename: Robert A
authors.initials: RA
authors.lastname: Schwartz
authors.forename: George
authors.initials: G
authors.lastname: Kihiczak
mesh_terms: D003879:Dermatologic Agents / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000628:therapy; D053556:Keratin-1; D053550:Keratin-10; D007633:Keratins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D003879:Dermatologic Agents; C491616:KRT1 protein, human; C507493:KRT10 protein, human; D053556:Keratin-1; D053550:Keratin-10; D007633:Keratins