Palmoplantar keratoderma [85 genes]

Palmoplantar keratodermas are a group of disorders associated with hyperkeratosis of the palms and soles as the principal manifestation. This clinical sign appears in genetic diseases with diffuse or focal involvement and is secondary to other chronic dermatological diseases.

The main genetic diseases included in the panel are the following:

• Diffuse palmoplantar keratoderma (Unna-Thost and Vörner type).
• Meleda disease.
• Vohwinkel syndrome.
• Papillon-Lefèvre syndrome.
• Richner-Hanhart syndrome.
• Pachyonychia congenita.

• Diffuse palmoplantar keratoderma (Unna-Thost and Vörner type): 1-9 / 100,000.
• Meleda disease: 1-9 / 100,000.
• Vohwinkel syndrome: <1 / 1,000,000.
• Papillon-Lefèvre syndrome: 1 / 250,000 – 1 / 1,000,000.
• Richner-Hanhart syndrome: <1 / 1,000,000 .
• Pachyonychia congenita: unknown.

Recommended service when a genetic origin of the keratoderma identified during the dermatological examination by a specialist is suspected.

The benefits of a genetic diagnosis in this context are aimed at finalizing the diagnosis, family genetic counseling, and providing more precise prognostic information.

Service indicated when a patient has been diagnosed with keratoderma and a genetic origin of the disease is suspected due to the impossibility of classifying it as secondary to other dermatological conditions.