Dermatologic clinics
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Among the severe genetic disorders of the skin that are suitable for gene and cell therapy, most efforts have been made in the treatment of blistering diseases including dystrophic epidermolysis bullosa. This condition can be recessively or dominantly inherited, depending on the nature and position of the mutation or mutations in the gene encoding type VII collagen. At present, there is no specific treatment for recessive dystrophic epidermolysis bullosa, and gene and cell therapy approaches hold great promise. This article discusses the different gene therapy approaches that have been used for the treatment of this disease and the new perspectives that they open.
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Patients with epidermolysis bullosa (EB) may present for anesthesia with an unrelated surgical condition or, more commonly, for diagnostic or therapeutic procedures. Children in particular may require frequent anesthetics. Safe and effective management of anesthesia presents a significant challenge and although there is little rigorous evidence available to aid decision-making, in this article the elements of current good anesthesia care in EB are summarized.
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Dermatologic clinics · Apr 2010
ReviewSurgery of the hand in recessive dystrophic epidermolysis bullosa.
The underlying genetic abnormalities of epidermolysis bullosa (EB) cause destabilization at the dermo-epidermal junction. Patients with EB characteristically are subject to blistering following relatively minor trauma (the Nikolsky sign), and suffer from ulcers and erosions in all areas subject to persistent or repeated friction, such as the hand. Hand deformities occur in most patients with dystrophic EB (DEB), and include adduction contractures of the first web space, pseudosyndactyly, and flexion contractures of the interphalangeal, metacarpophalangeal, and wrist joints. ⋯ Recurrent deformity occurs within 2 to 5 years. Meticulous skin care and the use of well-fitted splints supervised within a multidisciplinary team setting are essential. To date there is no strong evidence base on which to plan surgical treatment of the hand in DEB.