Vohwinkel syndrome
Vohwinkel syndrome is a rare genetic disorder characterized by specific skin and ear abnormalities. Individuals with this condition often have thickened skin on the palms and soles, as well as distinctive ear deformities, such as a notch in the outer ear. These features are due to mutations in the KRT17 gene, which plays a role in skin and hair development.
The syndrome can also lead to other issues, including hearing loss and problems with hair growth. It is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene from an affected parent can cause the condition in their offspring.