Dystrophic epidermolysis bullosa (DEB) is a severe skin fragility disorder associated with trauma-induced blistering, progressive soft tissue scarring, and increased risk of skin cancer. DEB is caused by mutations in…
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…
Patients with the more severe forms of epidermolysis bullosa (EB) are at risk of developing osteopenia, osteoporosis and fractures. The cause is likely to be multifactorial and includes reduced mobility,…
Involvement of the genitourinary tract has been described in many different types of epidermolysis bullosa (EB). Pathology may be broadly divided into problems resulting in obstruction, that may in turn…
Dilated cardiomyopathy (DC) is a rare but potentially fatal complication of epidermolysis bullosa. No clear cause for it has been identified, but iron overload, low carnitine, low selenium, concomitant viral…
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…
Epidermolysis bullosa (EB) results from genetic defects of molecules in the skin concerned with adhesion. Some of the most common problems seen with EB sufferers are blisters, vesicles, and bullas….
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…
Epidermolysis bullosa (EB) is a spectrum of rare, inherited, blistering skin disorders, primarily affecting the skin and pharyngoesophageal mucosa. EB affects approximately 2 to 4 per 100,000 children each year….
Dental treatment is an important part of the multidisciplinary care of patients with epidermolysis bullosa (EB). Routine dental treatment can be difficult to provide in patients with severe tissue fragility…
