Epidermolysis bullosa

Epidermolysis bullosa is a group of inherited disorders in which skin blisters or tears easily because structural proteins that hold skin layers together are altered or absent.

Skin anatomy: The structure of skin, including its epidermis, dermis, and the junction between them. EB blisters form when skin layers separate at particular structural boundaries.
Simplex epidermolysis bullosa: An EB subtype in which blisters usually form within the epidermis. It is commonly associated with defects in keratin genes and basal-cell fragility.
Genetic testing: Laboratory analysis used to identify disease-associated changes in DNA. Testing can confirm an EB diagnosis and clarify its subtype and inheritance.
Squamous cell carcinoma: A cancer arising from squamous epithelial cells. People with severe recessive dystrophic EB face elevated risk of aggressive skin tumors.
DebRA International: An international network of organizations supporting people affected by epidermolysis bullosa. Its member groups connect families with advocacy, information, and research support.
Basement membrane zone: A specialized interface that anchors the epidermis to underlying tissue. Several EB forms arise from defects in proteins that stabilize this interface.
Junctional epidermolysis bullosa: An EB subtype in which tissue separation occurs at the dermal-epidermal junction. Its defining cleavage level distinguishes it from epidermal and dermal forms.
Skin biopsy: Removal of a small skin sample for examination or laboratory testing. Specialized biopsy studies can locate the level of skin separation.
Anemia: A condition in which blood has reduced oxygen-carrying capacity. Chronic wounds and inflammation can contribute to anemia in severe EB.
EB Research Partnership: A nonprofit organization that funds research aimed at treatments and cures for EB. It supports research programs targeting the genetic causes and consequences of EB.

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