There is a wide range of health care delivery systems within the United States for patients with epidermolysis bullosa (EB). They range from nonexistent, primarily because of remote geographic locations,…
Puberty is the acquisition of secondary sexual characteristics, associated with a growth spurt, resulting in the attainment of reproductive function and final adult height. Delayed puberty is defined as the…
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited blistering disease caused by mutations in the type VII collagen gene, resulting in defective anchoring fibrils at the epidermal-dermal junction. At…
An interdisciplinary team approach, in which the treatment can be individualized to each patient and his or her family and tailored to the severity of the disease, is most beneficial…
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…
