• A group of chronic skin disorders in which fluid-filled blisters form on the skin and mucosa (the moist, inner lining of some organs and body cavities). Epidermolysis bullosa is inherited and usually starts at birth. Patients with epidermolysis bullosa may be at increased risk of squamous cell cancer of the skin.
  NCI Dictionary of Cancer Terms
  U.S. National Cancer Institute, 2021
• An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.
  NCI Thesaurus
  U.S. National Cancer Institute, 2021
• Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2021
• Inherited chronic noninflammatory skin disease manifested by vesicles, large bullae (blisters), and skin erosions which often result from trauma.
  CRISP Thesaurus
  National Institutes of Health, 2006
• Epidermolysis bullosa is a group of 4 very rare genetic diseases and their subtypes. Epithelial fragility and easy blistering of skin and mucous membranes usually manifest at birth or in infancy. Disease phenotypes vary from mild to life-threatening. Diagnosis is by skin biopsy with immunofluorescence testing or transmission electron...
  Merck Manuals
  Merck & Co., Inc., 2020
• Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. Historically, epidermolysis bullosa subtypes have been classified according to skin morphology.
  Medscape
  WebMD, 2019
• Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) is a group of rare diseases that cause fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing, scratching or adhesive tape. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or the stomach.
  Mayo Clinic
  Mayo Foundation for Medical Education and Research
• Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of EB, which are classified based on the depth, or level, of blister formation:...
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences
• Epidermolysis bullosa (EB) includes >30 inherited conditions characterized by mechanical fragility of skin and epithelial-lined tissues. EB is subclassified by the ultrastructural level within which blisters arise in the skin, clinical phenotype, and genotype. EB results from mutations within genes encoding for any of at least 18...
  Epocrates
  Athenahealth, Inc., 2019