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Epidermolysis Bullosa Simplex

Group of inherited disorders characterized by skin fragility and mechanically induced blistering occurring within the epidermis due to basal keratinocyte abnormalities. Most forms are inherited as autosomal dominant traits. Mutations most commonly occur in the genes encoding keratins expressed in basal cell keratin 5 (chromosome 12q) or keratin 14 (chromosome 17q). Generally, the prognosis of EB simplex is good, particularly in the common Weber-Cockayne type, the great majority of patient having a normal life expectancy-In the Weber Cockayne type the lesions are mostly localized to the hands and feet with palmoplantar bullae associated with callous and hyperhidrosis. Pain and superinfection are frequently present.-In the generalized type (Koebner type) bullae are generalized with mild mucosal erosions. Often present at birth, blistering and erosions occur during the perinatal period at sites determined by trauma during delivery or by handling in the nursery. Superinfection is frequent as well as worsening in the summer months. -In the Dowling Meara type widespread bullae are present in early infancy and blistering may be exceptionnally severe during the neonatal period. The hands and feet are the site of predilection. On the face, trunk and limbs blistering with herpetiform distribution may occur. Nail dystrophy may be present.

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