Recessive dystrophic epidermolysis bullosa (RDEB) is a rare skin disorder characterized by defects in collagen VII leading to range of pathologies dominated painful blister formation. Aberrant wound healing leads fibrosis that contributes life threatening cancers. We have developed an vitro model fibrotic extracellular matrix (ECM) produced primary RDEB patient dermal fibroblasts, which we use ...

Genetic loss of collagen VII causes recessive dystrophic epidermolysis bullosa (RDEB)-a severe skin fragility disorder associated with lifelong blistering and disabling progressive soft tissue fibrosis. Causative therapies for this complex disorder face major hurdles, and clinical implementation remains elusive. Here, we report an alternative evidence-based approach to ameliorate fibrosis and r...

angiofibromas.4 Successful treatment of nonangiofibroma cutaneous manifestations of TSC has been sparse. To our knowledge, topical rapamycin has not been used successfully to treat the ungual fibromas of TSC. In our case, the use of topical rapamycin was well tolerated and resulted in the resolution of subungual tumors and rapid normalization of the overlying nail distortion. The pathogenesis o...

Fifty patients with Dystrophic Epidermolysis Bullosa (DEB) underwent surgery including release of limb, oral, anal, eye and penile contractures and treatment of chronic skin ulceration or skin tumours. Correction of contractures involves extensive release of skin and underlying tissues, with split skin grafting of secondary defects. Specific regions are discussed. Recurrence is inevitable due t...