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Browse result for Epidermodysplasia verruciformis

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    Epidermodysplasia verruciformis (EV) is a skin condition characterised by warty skin lesions. It results from an abnormal susceptibility to HPV infection (HPV) and is associated with a high lifetime risk of squamous cell carcinomas in skin. It generally presents with scaly spots and small bumps particularly on the hands, feet, face and neck; typically beginning in childhood or in a young adult. The bumps tend to be flat, grow in number and then merge to form plaques. On the trunk, it typically appears like pityriasis versicolor; lesions there being slightly scaly and tan, brown, red or looking pale. On the elbows, it may appear like psoriasis. On the forehead, neck and trunk, the lesions may appear like seborrheic keratosis. It is most frequently inherited as an autosomal recessive trait, with some reports of autosomal dominant and X-linked inheritance. Other types include atypical EV which develops due to gene mutations that cause an impaired immune system, and acquired EV which occurs due to acquired immunodeficiency. It is characterized by an inability to protect against HPV infection of skin. HPV types 5 and 8 are detected in around 90% of skin cancers in people with EV. Other types are also associated with EV. In rare cases, the warts may develop into giant horns resulting in treeman syndrome. Prevention of skin cancer requires sun protection. Treatment typically involves surgery; sometimes with the addition of skin grafting. Medications used to treat the lesions include ALA-PDT (photodynamic therapy with aminolevulinic acid), applying 5-FU, imiquimod, and retinoids by mouth. The lesions tend to recur on stopping treatment. The condition is rare. The lesions have been noted to occur at a younger age in warmer climates. EV associated skin cancer develops less frequently in Africans. The condition was first described by Felix Lewandowsky and Wilhelm Lutz in 1922.

Reference
Wiki: Epidermodysplasia verruciformis



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD08811Q7Z40311322
TMC6
Transmembrane channel-like protein 6
Homo sapiens
PTMD09214Q8IU6814713
TMC8
Transmembrane channel-like protein 8
Homo sapiens