Vohwinkel

Vohwinkel syndrome is a rare genetic disorder characterized by hearing loss, honeycomb-like thickening of the skin (palmoplantar keratoderma), and a specific deformity of the fingers and toes called pseudoainhum. The syndrome is named after the German dermatologist Friedrich Vohwinkel, who first described it in 1929.

Symptoms and signs

The most common symptoms of Vohwinkel syndrome are:

• Hearing loss: This is usually progressive and can lead to profound deafness.
• Palmoplantar keratoderma: This is a thickening of the skin on the palms of the hands and the soles of the feet. It often has a honeycomb-like appearance.
• Pseudoainhum: This is a deformity of the fingers and toes that can lead to autoamputation.

Other symptoms can include nail dystrophy, alopecia, and hyperkeratosis.

Causes

Vohwinkel syndrome is caused by mutations in the GJB2 gene, which provides instructions for making a protein called Connexin 26. This protein is found in many tissues in the body, including the skin and inner ear, and is involved in cell-to-cell communication.

Diagnosis

The diagnosis of Vohwinkel syndrome is based on the clinical features and confirmed by genetic testing.

Treatment

There is currently no cure for Vohwinkel syndrome. Treatment is aimed at managing the symptoms and may include hearing aids, skin care, and surgery for pseudoainhum.

See also

• List of cutaneous conditions
• List of genetic disorders

References

Vohwinkel Resources
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