Vohwinkel syndrome

Disease Overview

Vohwinkel syndrome is an inherited condition that affects the skin. People with the “classic form” generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A “variant form” of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss.[10262][10263] Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner.[10262] Although there is currently no cure for the condition, treatments are available to alleviate symptoms.[10263][10264]

Synonyms

• Deafness, congenital, with keratopachydermia and constrictions of fingers and toes
• Mutilating keratoderma
• Keratoderma hereditarium mutilans
• KHM