Epidermolytic palmoplantar keratoderma

Epidermolytic Palmoplantar Keratoderma
Classification and external resources
ICD-10	Q82.8
OMIM	144200

Epidermolytic palmoplantar keratoderma (EPPK) is a rare genetic disorder characterized by the thickening (keratoderma) of the skin on the palms of the hands and the soles of the feet. This condition is classified under the broader category of palmoplantar keratodermas, which are disorders affecting the skin of the palms and soles.

Symptoms and Signs

The primary symptom of EPPK is the development of thick, rough skin on the palms and soles, which can be painful and may crack. The skin abnormalities typically appear in infancy or early childhood and may worsen with age. In some cases, the keratoderma may extend to the sides of the fingers and toes.

Genetics

EPPK is most commonly inherited in an autosomal dominant pattern, which means a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is often associated with mutations in the keratin genes KRT9 or KRT1, which play a crucial role in the structural stability and integrity of the skin.

Diagnosis

Diagnosis of EPPK is primarily based on the clinical presentation of the skin abnormalities. Genetic testing may be conducted to confirm the diagnosis and identify the specific mutation. This can also be helpful for genetic counseling purposes.

Treatment

There is no cure for EPPK, but treatments are available to manage the symptoms. These may include the use of emollients and keratolytic agents to soften and reduce the thickness of the skin. In severe cases, more intensive treatments such as retinoids may be prescribed. Regular follow-up with a dermatologist is recommended to monitor the condition and adjust treatment as necessary.

Prognosis

While EPPK can be uncomfortable and may interfere with daily activities, it does not typically affect overall health. Management strategies can significantly improve the quality of life for those affected.

See Also

• Palmoplantar keratoderma
• Keratin
• Genetic disorders
• Dermatology