Chronic pain and itch are substantial quality-of-life obstacles for patients with the genetic skin disorder recessive dystrophic epidermolysis bullosa (RDEB). RDEB is caused by lossof-function mutations in the anchoring fibril protein type VII collagen. Extreme skin fragility leads to chronic wounds and inflammation that is accompanied by significant pain and itch. Itchy skin has consistently r...

BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration i...

BACKGROUND Anesthesia in children with dystrophic epidermolysis bullosa (EB) presents a significant challenge as many children have a difficult airway and are at risk for additional blistering. In this retrospective study we compared deep sedation/ analgesia and general anesthesia for safety and efficiency. Procedure, type of anesthesia, airway management, complications, time for induction and ...

Epidermolysis bullosa is an intractable skin condition characterized by the development of vesicles and bullae spontaneously or as a result of minimal trauma. It is usually hereditary and appears to be due to a congenital defect of skin structure. It has been divided into a simple or non-scarring type inherited as a Mendelian dominant trait and a dystrophic or scarring variety of greater severi...

epidermolysis bullosa (eb) is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. junctional variety of eb is also associated with enamel hypoplasia. amelogenesis imperfecta presents with abnormal formation of the enamel both in deciduous and permanent dentition. this article describes a previously unreported case of amelogenesis...

Recessive dystrophic epidermolysis bullosa is a severe genetic blistering skin condition resulting in chronic wounds. Nonhealing wounds were treated over 8 weeks using a reconstituted natural purified type I collagen skin substitute. Chronic wounds were defined as nonhealing wounds present for longer than 6 months. For each patient, two chronic wounds were identified and randomized into a contr...

Type VII collagen is an adhesion molecule of the extracellular matrix in epithelial basement membranes, and the main constituent of anchoring fibrils at the dermal-epidermal junction (DEJ). Autoimmunity against this protein is causing the rare organ-specific epidermolysis bullosa acquisita (EBA). EBA is a rare acquired, heterogeneous, chronic blistering disease of skin disease of skin and mucou...