About Keratosis palmaris et plantaris-clinodactyly syndrome

What is Keratosis palmaris et plantaris-clinodactyly syndrome?

Keratosis palmaris et plantaris-clinodactyly syndrome (KPP-CD) is a rare genetic disorder characterized by the presence of thickened skin on the palms and soles of the feet, as well as a curved or bent fifth finger (clinodactyly). It is caused by a mutation in the gene encoding the protein filaggrin, which is involved in the formation of the skin barrier. Symptoms of KPP-CD may include dry, scaly skin, itching, and pain. Treatment typically involves the use of topical medications and moisturizers to reduce skin dryness and irritation.

What are the symptoms of Keratosis palmaris et plantaris-clinodactyly syndrome?

The symptoms of Keratosis palmaris et plantaris-clinodactyly syndrome include:

-Thickening of the skin on the palms and soles of the feet
-Flexion deformities of the fingers and toes
-Abnormal curvature of the fifth finger
-Small, cone-shaped nails
-Dry, scaly skin
-Hyperkeratosis (thickening of the skin)
-Hyperhidrosis (excessive sweating)
-Painful calluses on the palms and soles of the feet
-Painful corns on the toes
-Painful cracking of the skin on the palms and soles of the feet
-Painful Blisters on the palms and soles of the feet
-Painful ulcers on the palms and soles of the feet

What are the causes of Keratosis palmaris et plantaris-clinodactyly syndrome?

Keratosis palmaris et plantaris-clinodactyly syndrome is a rare genetic disorder caused by a mutation in the KRT6A gene. This gene is responsible for the production of a protein called keratin 6A, which is essential for the formation of the outer layer of the skin. Mutations in this gene can lead to the development of the syndrome, which is characterized by thickened skin on the palms and soles of the feet, as well as curved fingers and toes.

What are the treatments for Keratosis palmaris et plantaris-clinodactyly syndrome?

The treatments for Keratosis palmaris et plantaris-clinodactyly syndrome are mainly supportive and symptomatic. Treatment may include physical therapy to help improve range of motion and strength, splinting to help reduce pain and deformity, and orthopedic surgery to correct any deformities. Other treatments may include topical creams and ointments to help reduce skin irritation, and medications to help reduce inflammation and pain.

What are the risk factors for Keratosis palmaris et plantaris-clinodactyly syndrome?

1. Genetic predisposition: Keratosis palmaris et plantaris-clinodactyly syndrome is an inherited disorder caused by a mutation in the GJB2 gene.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

3. Age: The disorder is more common in individuals over the age of 40.

4. Gender: The disorder is more common in males than females.

Is there a cure/medications for Keratosis palmaris et plantaris-clinodactyly syndrome?

There is no known cure for Keratosis palmaris et plantaris-clinodactyly syndrome. Treatment is focused on managing the symptoms, which may include physical therapy, splinting, and medications to reduce pain and inflammation.