Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.
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.
Lacz
Nicole L
NL
Dermatology, UMDNJ-New Jersey Medical School, Newark, New Jersey 07103-2714, USA.
Schwartz
Robert A
RA
Kihiczak
George
G
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
D003879:Dermatologic Agents; C491616:KRT1 protein, human; C507493:KRT10 protein, human; D053556:Keratin-1; D053550:Keratin-10; D007633:Keratins