KLICK syndrome: an unusual phenotype

Erythrokeratoderma refers to a group of rare inherited disorders with both clinical and genetic heterogeneities.¹ Lesions usually start in infancy and are characterized by localized and well-demarcated erythematous and hyperkeratotic plaques, sometimes with a migratory nature. Erythrokeratoderma is often inherited as an autosomal dominant trait caused by mutations in the genes GJB3, GJB4, or GJA1, encoding connexins 31, 30.3, and 43, respectively. Erythrokeratoderma may be associated with neurological anomalies and can be caused by ELOVL4.² Recently, mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide pathway were also demonstrated to lead to erythrokeratoderma.³

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from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2Edd9hB