About Keratoderma hereditarium mutilans

What is Keratoderma hereditarium mutilans?

Keratoderma hereditarium mutilans is a rare inherited skin disorder characterized by thickening and scaling of the palms and soles. It is caused by a mutation in the GJB2 gene, which is responsible for the production of a protein called connexin 26. Symptoms of this disorder include thickening and scaling of the palms and soles, as well as the formation of painful calluses. In some cases, the disorder can also cause nail deformities and the development of warts. Treatment typically involves the use of topical medications and moisturizers to reduce the symptoms.

What are the symptoms of Keratoderma hereditarium mutilans?

The symptoms of Keratoderma hereditarium mutilans include thickening of the skin on the palms and soles, as well as the formation of deep fissures and cracks in the skin. The skin may also become red and scaly, and the nails may become thickened and discolored. In some cases, the skin may become painful and itchy.

What are the causes of Keratoderma hereditarium mutilans?

Keratoderma hereditarium mutilans is a rare inherited skin disorder caused by mutations in the GJB3 gene. This gene is responsible for producing a protein called connexin 31, which helps to form gap junctions between cells. Mutations in this gene can lead to a decrease in the production of connexin 31, resulting in the thickening of the skin on the palms and soles of the feet.

What are the treatments for Keratoderma hereditarium mutilans?

The treatments for Keratoderma hereditarium mutilans include topical retinoids, topical corticosteroids, topical calcipotriol, topical salicylic acid, topical urea, topical vitamin D analogues, topical immunomodulators, systemic retinoids, systemic immunosuppressants, and phototherapy.

What are the risk factors for Keratoderma hereditarium mutilans?

1. Family history of Keratoderma hereditarium mutilans
2. Genetic predisposition
3. Exposure to environmental irritants
4. Certain medications
5. Certain skin conditions, such as psoriasis or eczema
6. Stress
7. Poor nutrition
8. Excessive sun exposure

Is there a cure/medications for Keratoderma hereditarium mutilans?

There is no known cure for Keratoderma hereditarium mutilans. Treatment is focused on managing the symptoms and preventing further damage. This may include topical medications such as corticosteroids, retinoids, and calcipotriene, as well as systemic medications such as methotrexate, acitretin, and cyclosporine.