Erythrokeratodermia variabilis.
A 47-year-old woman presented with both transient, figurate, erythematous patches and fixed, hyperkeratotic plaques on the upper extremities. Her cutaneous disease began in childhood and affects numerous siblings and her daughter. Her clinical presentation, history, and histopathologic analysis were consistent with erythrokeratodermia variabilis, which is a genodermatosis linked to mutations in the gene encoding for the gap-junction protein, connexin 31.
Ronald O. Perelman Department of Dermatology, New York University, USA.
Bruce E
BE
Strober
D017630:Connexins / Q000235:genetics; D004890:Erythema / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007642:Keratosis / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009154:Mutation
D017630:Connexins; C068044:GJB3 protein, human