EP400NL

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EP400NL: A Comprehensive Guide to Inherited Skin Condition

Description:

Epidermodysplasia verruciformis (EP400NL) is a rare, inherited skin condition characterized by an abnormal response to human papillomavirus (HPV) infections. This leads to the development of numerous warts, flat lesions, and skin cancer on sun-exposed areas of the skin.

Associated Diseases:

Genetic studies have identified two genes, EVER1 and EVER2, whose mutations are responsible for EP400NL. These genes encode proteins involved in the immune system's ability to recognize and clear HPV infections. In the absence of functional EVER proteins, HPV infections persist, leading to the development of skin lesions.

Did you Know ?

EP400NL is estimated to affect approximately 1 in 100,000 individuals worldwide. However, the prevalence may vary depending on geographic location and genetic factors.