Vohwinkel syndrome, variant form


Type of disease: Pediatric onset | Rare conditions

Vohwinkel syndrome, variant form is similar to classic Vohwinkel syndrome, but without hearing loss or deafness. Symptoms normally start when the individual is a baby and continue to appear throughout childhood. The skin on the palms of the hands and the soles of the feet become bumpy, with a “honeycomb” pattern and feeling. The outermost layer of skin on the knuckles and knees may thicken and become callused (a hard build-up of skin) and usually has a “starfish-shaped” pattern; it may also become less sensitive. After a few years ring-like bands of extra skin (fibrous tissue) may start to grow around the fingers and toes. These bands become constricting and may cut off blood flow to the fingers and toes and may lead to their loss.

One of the defining features of Vowinkel syndrome, variant form is ichthyosis, a skin condition where the skin appears dry and scaly and sometimes red.

Vohwinkel syndrome is an inherited genetic disorder. An inherited genetic disorder means the condition is passed from parent to child. Vohwinkel syndrome, variant form is passed down from parent to child in an autosomal dominant inheritance. This means that if a parent has this condition, then each of their children has a 50/50 chance of also having the condition. This disorder is caused by a mutation in the LOR gene on chromosome 1q21. 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.

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