The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa

Dominant Dystrophic Epidermolysis Bullosa Pruriginosa Responding to Naltrexone Treatment

“…Kristine Appel Uldall PALLESEN 1,2 , Kim Hein LINDAHL 3 www.medicaljournals.se/acta DISCUSSION Epidermolysis bullosa is a genetic mechanobullous skin disorder characterized by skin fragility and blister formation from mechanical trauma. DEB is one of the 4 major subtypes of EB (4) and is caused by a mutation in COL7A1 gene, which encodes type VII collagen.…”

“…The skin manifestations are mostly seen on the shins and forearms. The nails, especially toenails, can be dystrophic (3).…”

“…The skin is characterized by bullae and erosions located on the extensor sites of the extremities from early childhood. Patients experience intense pruritus and other manifestations, such as papules, nodules, scarring and nail dystrophy in adulthood (3).…”