Dystrophic epidermolysis bullosa: a review

Abstract

Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and malignancy. The disease is usually diagnosed by immunofluorescence mapping and/or transmission electron microscopy and subsequently subclassified into one of 14 subtypes. This review provides practical knowledge on the disease, including new therapeutic strategies.

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

“…DEB is characterized by blistering within the uppermost dermis and results from mutations in COL7A1 gene, encoding type VII collagen, a major component of the anchoring fibrils providing stable dermal‐epidermal adhesion . DEB is inherited either by autosomal dominant (DDEB) or recessive (RDEB) manner.…”

“…1,10 DEB is characterized by blistering within the uppermost dermis and results from mutations in COL7A1 gene, encoding type VII collagen, a major component of the anchoring fibrils providing stable dermal-epidermal adhesion. 1,11,12 DEB is inherited either by autosomal dominant (DDEB) or recessive (RDEB) manner. DDEB is usually associated to glycine substitutions within the triple helix of COL7A1, although other missense mutations, deletions and splice-site mutations have been reported in several rare cases.…”

Renal involvement in epidermolysis bullosa patients: a case series study

“…However, it is important to note that most RDEB patients are often infected with multidrugresistant bacteria and on a constant chronic inflammatory state, which are proven to be major players for most of the extra cutaneous complications in EB, including renal disease. 6 No JEB patients were diagnosed with renal involvement, although 16 patients were alive at some point of this period. A possible explanation is a lower life expectancy when compared with other populations.…”

Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa

“…Compared with MNs and ZFNs, TALENs and CRISPR/Cas offer more flexibility in target site design, which enables the targeting of mutation-specific sites in patients with genetic diseases. Dominant dystrophic epidermolysis bullosa (DDEB) is a rare genetic blistering skin disorder with no known cure (8,9). DDEB is caused by dominant negative mutations in the COL7A1 gene encoding type VII collagen (COL7).…”