SNP Shot: Genomic Insights

Vohwinkel syndrome is a condition that exists in both classic and variant forms, both impacting the skin.

The classic type of Vohwinkel syndrome is characterized by thick, honeycomb-patterned calluses on the hands and feet (palmoplantar keratoses) that develop in infancy or early childhood. Children with this form also often exhibit distinctive, starfish-shaped areas of thickened skin on the fingers, toes, or knees. Within a few years, constricting bands of abnormal tissue develop around their fingers and toes (pseudoainhum), potentially cutting off blood supply and leading to spontaneous amputation. Hearing loss is also present in individuals with the classic form.

The variant form of Vohwinkel syndrome differs in that hearing loss is absent. The skin manifestations also include widespread dry, scaly skin (ichthyosis), particularly on the arms and legs. This ichthyosis is typically mild, and there may also be some skin redness (erythroderma). Some affected babies are born with a tight, transparent covering over their skin, known as a collodion membrane, which is usually shed within the first few weeks of life.

Inheritance:

The condition follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the disorder. In most instances, an affected individual inherits the altered gene from a parent who also has the condition. However, some cases arise from new gene mutations and occur in individuals with no prior family history of the syndrome.