epidermolysis bullosa dystrophica (EBD)

Pathology

• tissue separation occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils

Genetics

• autosomal dominant & autosomal recessive forms
• caused by mutations in 1 of 14 genes encoding proteins of the dermal-epidermal junction
• associated with mutations in COL7A1 leading to the absence of collagen type-7

Clinical manifestations

• blistering occurs in dermis
• clinical types with different severity, ranging from severe mutilating forms to mild forms with limited & localized scarring
• patients with recessive EBD have continuous blistering of the skin & mucosa, extensive scarring, mutilating hand deformities, esophageal strictures, & aggressive squamous-cell carcinomas
• less frequent extracutaneous manifestations

Management

• treatment is palliative, no specific therapy available
• allogeneic bone marrow transplantation is investigational

More general terms

• epidermolysis bullosa
• genetic disease of the skin (genodermatosis)

More specific terms

• epidermolysis bullosa dystrophica Hallopeau-Siemens type
• epidermolysis bullosa dystrophica neurotrophica; epidermolysis bullosa with congenital deafness
• epidermolysis bullosa dystrophica pretibial type (PR-DEB)
• epidermolysis bullosa dystrophica, Bart syndrome type (epidermolysis bullosa with congenital localized absence of skin & deformity of nails)
• epidermolysis bullosa dystrophica, Pasini type (albopapuloid dominant dystrophic epidermolysis bullosa)
• epidermolysis bullosa localisata
• epidermolysis bullosa mitis
• epidermolysis bullosa pruriginosa (EBP)
• transient bullous dermolysis of the newborn (TBDN)

Database

• OMIM: https://mirror.omim.org/entry/131750
• OMIM: https://mirror.omim.org/entry/226600