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Tests and diagnosis
By Mayo Clinic staffYour doctor may suspect epidermolysis bullosa from the appearance of the skin, but laboratory tests are needed to confirm the diagnosis. They include:
- Skin biopsy. Removing a small sample of affected skin and examining it under a microscope can reveal which layer of skin is separating and which type of epidermolysis bullosa is present. Sometimes very specialized tests, such as electron microscopy or immunoelectron microscopy, are required to confirm the diagnosis.
- Genetic testing. Because most forms of epidermolysis bullosa are inherited, the results of genetic testing, usually done with a blood sample sent to a lab for analysis, can confirm the diagnosis.
References
- Epidermolysis bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp. Accessed June 9, 2011.
- Fine JD, et al. The classification of inherited epidermolysis bullosa (EB): Report of the third international consensus meeting on diagnosis and classification of EB. Journal of the American Academy of Dermatology. 2008;58:931.
- Fine JD. Inherited epidermolysis bullosa: Recent basic and clinical advances. Current Opinion in Pediatrics. 2010;22:453.
- Habif TP. Vesicular and bullous diseases. In: Habif TP. Clinical Dermatology: A Color Guide to Diagnosis and Therapy. 5th ed. Edinburgh, U.K.; New York, N.Y.: Mosby Elsevier; 2010. http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7234-3541-9..00025-0--s0780&isbn=978-0-7234-3541-9&uniqId=240601062-5#4-u1.0-B978-0-7234-3541-9..00025-0--s0780. Accessed June 8, 2011.
- About EB. Dystrophic Epidermolysis Bullosa Research Association. http://www.debra.org/abouteb. Accessed June 10, 2011.
- Progress in epidermolysis bullosa research: Toward treatment and cure. The Journal of Investigative Dermatology. 2010;130:1778.
- Healthcare problems. Dystrophic Epidermolysis Bullosa Research Association. http://www.debra.org/healthcare. Accessed June 10, 2011.
- Hand JL (expert opinion). Mayo Clinic, Rochester, Minn. June 15, 2011.
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