Vohwinkel syndrome is a rare inherited genetic disorder. Symptoms normally start when the individual is a baby and continue to appear throughout childhood. Skin on the palms of the hands and the soles of the feet become the most affected. The skin here becomes bumpy, similar a “honeycomb” pattern and feeling. The outermost layer of skin on the knuckles (tops of the fingers) and knees may thicken and become callused (build-up of skin until it becomes hard and insensitive) as a result of this disease. The affected skin in these areas is described as being in a clear “starfish-shaped” pattern. As the skin thickens, it becomes more tough-feeling, rough, and less sensitive. After a few years of having the disease, ring-like bands of extra skin (fibrous tissue) may start to grow around the fingers and toes. These bands become constricting (may cut off blood flow) to the fingers and toes and may lead to their loss.
Vohwinkel syndrome also causes hearing loss as it damages the nerves from the brain to the inner ear. Less common symptoms include baldness (losing hair), random movement of muscles, nearsightedness, and fingernails that are disfigured.
Vohwinkel syndrome is passed down from parent to child in an autosomal dominant inheritance pattern. This means that if a parent has this condition, then each of their children have a 50/50 chance of also having the condition. This disorder is caused by a mutation in the GJB2 gene. Although there is no cure, there are treatments available to help ease the symptoms. If you or a family member has been diagnosed with this condition, talk to your doctor about the best treatment options and resources.
Description Last Updated: Feb 12, 2018