About Erythrokeratodermia Variabilis et Progressiva

What is Erythrokeratodermia Variabilis et Progressiva?

Erythrokeratodermia Variabilis et Progressiva (EKVP) is a rare, inherited skin disorder characterized by redness and thickening of the skin. It is caused by a mutation in the GJB3 gene, which is responsible for the production of a protein called connexin 31. Symptoms of EKVP usually begin in childhood and can include patches of red, scaly skin on the face, neck, and upper chest. The patches may become more widespread over time, and can also affect the hands, feet, and other areas of the body. In some cases, the skin may become thickened and hardened. Treatment for EKVP is typically focused on managing symptoms and preventing infection.

What are the symptoms of Erythrokeratodermia Variabilis et Progressiva?

The symptoms of Erythrokeratodermia Variabilis et Progressiva (EVP) include:

-Red, scaly patches on the skin that may become thicker and darker over time
-Thickening of the skin on the palms and soles
-Blisters or ulcers on the skin
-Thickening of the nails
-Hair loss
-Itching or Burning sensation on the affected areas
-Discoloration of the skin
-Thickening of the skin on the face, neck, and scalp

What are the causes of Erythrokeratodermia Variabilis et Progressiva?

The exact cause of erythrokeratodermia variabilis et progressiva (EKVP) is unknown. However, it is believed to be an inherited disorder caused by a mutation in the GJB3 gene, which is responsible for the production of a protein called connexin 31. This protein helps to form gap junctions between cells, which are important for the proper functioning of the skin. Mutations in this gene can lead to the development of EKVP.

What are the treatments for Erythrokeratodermia Variabilis et Progressiva?

1. Topical corticosteroids: These are used to reduce inflammation and itching.

2. Phototherapy: This involves exposing the affected areas to ultraviolet light, which can help reduce the redness and scaling.

3. Oral retinoids: These medications can help reduce the redness and scaling associated with EVP.

4. Systemic immunosuppressants: These medications can help reduce the inflammation associated with EVP.

5. Laser therapy: This can help reduce the redness and scaling associated with EVP.

6. Surgery: In some cases, surgery may be necessary to remove the thickened skin.

What are the risk factors for Erythrokeratodermia Variabilis et Progressiva?

1. Genetic predisposition: Erythrokeratodermia Variabilis et Progressiva (EVP) is an inherited disorder caused by mutations in the GJB3 gene.

2. Environmental factors: Exposure to certain environmental triggers, such as ultraviolet light, heat, and stress, can cause flare-ups of EVP.

3. Age: EVP is most commonly seen in children and young adults.

Is there a cure/medications for Erythrokeratodermia Variabilis et Progressiva?

There is no known cure for Erythrokeratodermia Variabilis et Progressiva (EVP). However, there are medications that can help manage the symptoms. These include topical corticosteroids, oral retinoids, and phototherapy. Additionally, lifestyle modifications such as avoiding triggers, using moisturizers, and wearing protective clothing can help reduce the severity of symptoms.