Erythrokeratodermia Variabilis Et Progressiva 5

A number sign (#) is used with this entry because of evidence that erythrokeratodermia variabilis et progressiva-5 (EKVP5) is caused by homozygous mutation in the KRT83 gene (602765) on chromosome 12q13. One such family has been reported.

For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).

Clinical Features

Shah et al. (2017) reported a large Pakistani kindred in which 4 individuals, including a brother and sister, presented 'typical' progressive symmetric erythrokeratodermia within the first 2 years of life. Affected family members exhibited symmetric lichenified hyperkeratotic plaques over the face, arms, legs, hands, and feet, as well as under the axillae, elbows, and knees, with accentuated creases over the knees and elbows and multiple peridigital constrictions on the dorsa of the fingers. They also showed palmoplantar hyperkeratosis with thick nails on the fingers and toes, and joint stiffening of the elbows, hands, knees, and feet. Perspiration, hair, teeth, hearing, and intelligence were normal in all. Although there were no documented inbreeding loops, the kindred was from a rural region of the Punjab province of Pakistan where consanguinity is common.