The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991).
Genetic Heterogeneity of Erythrokeratodermia Variabilis et Progressiva
See EKVP2 (617524), caused by mutation in the GJB4 gene (605425); EKVP3 (617525), caused by mutation in the GJA1 gene (121014); EKVP4 (617526), caused by mutation in the KDSR gene (136440); EKVP5 (617756), caused by mutation in the KRT83 gene (602765); EKVP6 (618531), caused by mutation in the TRPM4 gene (606936); and EKPV7 (619209), caused by mutation in the PERP gene (609301). [from
OMIM]