Vohwinkel syndrome: ichthyosiform variant in a family

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.

Exploring Pseudoainhum in Camisa syndrome

“…Camisa syndrome, also called as variant Vohwinkel's syndrome or loricrin keratoderma, is a rare variant that is associated with ichthyosis most commonly ichthyosis vulgaris and lamellar ichthyosis 3 . Pseudoainhum (constricting circumferential band around a digit or limb) is one of the classical features of this syndrome while starfish‐shaped keratotic papules and deafness are not observed 4,5 …”