Erythrokeratodermia variabilis. A family study

Abstract

Erythrokeratodermia variabilis is a rare genodermatosis; American authors have reported only four previous cases. It had been a problem to obtain a large pedigree for clinical investigation. We studied a family with 12 involved members in five generations. Symmetrically distributed migratory patches and scaling plaques are characteristic and were found to involute with a combination of keratolytic agents and topical steroids. Exacerbations of these patches and plaques were noted in our female patients during such high estrogen states as pregnancy or oral contraceptive usage.

Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4

“…Their symptoms evolve with time and stabilize after puberty, which can be precipitated by trauma, emotional stress, temperature, and hormonal changes. 3,4 The majority of EKVP cases display an autosomal dominant mode of inheritance with incomplete penetrance, although recessive transmission has also been described. 5,6 Mutations associated with EKVP have been primarily detected in connexin (Cx) genes GJB3 (Cx31) and GJB4 (Cx30.3) with fewer reports in GJA1 (Cx43), keratin 83 (KRT83) and 3-ketodihydrosphingosine reductase (KDSR).…”

“…The onset of disorder is typically at birth or in infancy but may also begin in later childhood or early adulthood. Their symptoms evolve with time and stabilize after puberty, which can be precipitated by trauma, emotional stress, temperature, and hormonal changes 3,4 . The majority of EKVP cases display an autosomal dominant mode of inheritance with incomplete penetrance, although recessive transmission has also been described 5,6 .…”

Autosomal Recessive Inheritance of Erythrokeratoderma Variabilis

“…Er)'-thematous patches may become less prominent with increasing age. Hormonal influences have been suggested, with reports of resolution of lesions at menopause and deterioration during pregnancy or with estrogencontaining contraceptive preparations (9).…”