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Diseases

Genetic and Rare Diseases Information Center (GARD)

Vohwinkel syndrome


Other Names for this Disease
  • Deafness, congenital, with keratopachydermia and constrictions of fingers and toes
  • Mutilating keratoderma
  • Keratoderma hereditarium mutilans
  • KHM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.[1][2] 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.[1] Although there is currently no cure for the condition, treatments are available to alleviate symptoms.[2][3]
Last updated: 12/18/2015

References

  1. Vohwinkel syndrome. Genetics Home Reference. November 2012; http://ghr.nlm.nih.gov/condition/vohwinkel-syndrome.
  2. Zoltan Trizna, MD, PhD. Vohwinkel Syndrome. Medscape Reference. January 2015; http://emedicine.medscape.com/article/1108458-overview.
  3. Diffuse hereditary palmoplantar keratodermas. DermNet NZ. September 2015; http://dermnetnz.org/scaly/diffuse-keratoderma.html.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Vohwinkel syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Vohwinkel syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Deafness, congenital, with keratopachydermia and constrictions of fingers and toes
  • Mutilating keratoderma
  • Keratoderma hereditarium mutilans
  • KHM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.