Extracutaneous manifestations and complications of inherited epidermolysis bullosa

Dental and Anaesthetic Challenges in a Patient with Dystrophic Epidermolysis Bullosa

“…13−15 Moreover, in comparison to an oral tube, a nasal tube is more easily secured without tape and provides a more spacious surgical field for dental treatment. 13−15 Oesophageal strictures and dysphagia are common in patients with DEB and tend to increase the risk of gastro-oesophageal reflux, potentially affecting GA administration; 18 however, this problem was not encountered in the current case.…”

Systemic granulocyte colony-stimulating factor (G-CSF) enhances wound healing in dystrophic epidermolysis bullosa (DEB): Results of a pilot trial

“…Many subtypes are associated with severe multiorgan disease activity or complications, and the life expectancy in some of the more severe EB subtypes is markedly foreshortened. 1,9 By age 50 years, data from the National EB Registry project estimated that the years of life lost in the generalized severe subtypes of junctional EB and RDEB were 19.4 and 17.1 years, respectively. 10 Wound healing is a particularly major concern to all patients with EB.…”

“…Abnormal wound healing is a constant overriding concern, because it impacts greatly on overall quality of life, contributes to pain, allows chronic loss of fluid and nutrients, is a portal for potentially life-threatening systemic bacterial infections and, in some EB subtypes, most notably dystrophic EB (DEB), provides the milieu that promotes the eventual development of squamous cell carcinomas. 1 Recently a patient of ours with severe generalized recessive DEB (RDEB) who had undergone bone-marrow transplantation (BMT) for her disease made the observation that there was significant improvement in her wound healing during autologous peripheral blood stem cell mobilization with granulocyte colonystimulating factor (G-CSF) before the transplantation. Repeated treatment with G-CSF posttransplantation in this patient resulted in rapid healing of her oral and cutaneous wounds.…”

Renal-skin syndromes

“…In severe dystrophic EB attributable to collagen VII deficiency, chronic renal failure resulting from hydronephrosis, poststreptococcal glomerulonephritis, IgA mesangial disease, or renal amyloidosis often occurs (Fine and Mellerio 2009) but there are additional complications during this severe disorder. Here, we describe in detail those EB types for which reno-urinary involvement is a primary feature.…”