Erythrokeratodermia variabilis ichthyosis

Erythrokeratodermia Variabilis et Progressiva (EVP), also known as Erythrokeratodermia Variabilis Ichthyosis, is a rare genetic skin disorder characterized by the coexistence of two major symptoms: transient erythematous patches (red patches) and permanent hyperkeratotic plaques (thickened skin). This condition falls under the broader category of ichthyosis, which refers to a group of skin disorders causing dry, scaly skin.

Etiology and Genetics

EVP is primarily inherited in an Autosomal Dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The mutations often occur in the GJB3 gene or the GJB4 gene, which encode for connexin 31 and connexin 30.3, respectively. These proteins are crucial for cell-to-cell communication in the skin, and mutations can disrupt normal skin development and function, leading to the symptoms of EVP.

Clinical Features

Patients with EVP exhibit a wide range of symptoms, including:

• Erythematous patches: These are red, well-demarcated areas that can appear anywhere on the body and may change in size and location over time.
• Hyperkeratotic plaques: These are thick, scaly patches that are usually found on the limbs and buttocks and tend to be persistent.
• Variable presentation: The appearance and severity of symptoms can vary significantly among affected individuals, even within the same family.

Diagnosis

Diagnosis of EVP is primarily based on clinical observation of the skin features. Genetic testing can confirm the diagnosis by identifying mutations in the GJB3 or GJB4 genes. Histopathological examination of skin biopsies can also support the diagnosis by revealing characteristic changes in the skin layers.

Treatment

There is no cure for EVP, and treatment focuses on managing symptoms and improving the quality of life for affected individuals. Treatment options may include:

• Topical treatments such as moisturizers and keratolytic agents (to soften and remove scales)
• Retinoids to reduce hyperkeratosis
• Corticosteroids to manage inflammation and erythema
• Laser therapy for persistent lesions

Prognosis

The prognosis for individuals with EVP is generally good, with many able to manage their symptoms effectively through ongoing care. However, the condition is chronic and requires lifelong management.

Epidemiology

EVP is extremely rare, with only a few hundred cases reported in the medical literature worldwide. It affects males and females equally and can present at any age, although symptoms often begin in infancy or early childhood.

Erythrokeratodermia variabilis ichthyosis Resources
Latest articles Most recent articles Ongoing trials	Wikipedia