Dystrophic epidermolysis bullosa (DEB) is due to mutations in the type VII collagen (C7) gene. Potential therapies for DEB include (i) ex vivo gene therapy and (ii) intradermal injection of gene-corrected DEB fibroblasts, lentiviral vectors expressing C7 or recombinant C7 itself. With regard to molecular engineering, the dermal fibroblast has advantages over epidermal keratinocytes for deliveri...

Occurrence of Hereditary Nephritis, Pretibial Epidermolysis bullosa and Beta-Thalassemia minor in Two Siblings with End-Stage Renal Disease A. Alexander Kagan S. Steven Feld J. Juan Chemke Y. Yaacov Bar-Khayim Division of Nephrology, Department of Internal Medicine B, and Clinical Genetics Unit, Kaplan Hospital (affiliated to the Medical School of the Hebrew University and Hadassah, Jerusalem),...

We identified a congenital mechanobullous skin disorder in six calves on a single farm of an endangered German cattle breed in 2010. The condition presented as a large loss of skin distal to the fetlocks and at the mucosa of the muzzle. All affected calves were euthanized on humane grounds due to the severity, extent and progression of the skin and oral lesions. Examination of skin samples unde...

Little research has been done regarding the treatment of severe hand deformities caused by epidermolysis bullosa. A 14-year-old boy was diagnosed with congenital epidermolysis bullosa. He was treated in our hospital several times, but the pathogenetic condition worsened. On examination, both hands were clenched fists and had scar formation. Skin fusion was observed between the 5 fingers. Nails ...

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...