Vohwinkel syndrome: ichthyosiform variant in a family

Abstract

Abstract: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.

Keywords

• Genetic diseases, inborn
• Ichthyosis
• Keratinocytes
• Keratoderma, palmoplantar
• Skin diseases, genetic