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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 [3] - less frequent extracutaneous manifestations Management: - treatment is palliative, no specific therapy available [2] - allogeneic bone marrow transplantation is investigational [3]

Specific

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)

General

epidermolysis bullosa genetic disease of the skin (genodermatosis)

Database Correlations

OMIM correlations

References

  1. Harrison's Principles of Internal Medicine, 14th ed., Fauci et al eds., 1998, p2193-4
  2. Uitto J. Epidermolysis bullosa: Prospects for cell-based therapies. J Invest Dermatol 2008 Sep; 128:2140. PMID: 18695685
  3. Journal Watch, Massachusetts Medical Society Aug 13, 2010 - Wagner JE et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med 2010 Aug 12; 363:629. PMID: 20818854 - Bruckner-Tuderman L. Systemic therapy for a genetic skin disease. N Engl J Med 2010 Aug 12; 363:680. PMID: 20818860