Your doctor may suspect epidermolysis bullosa from the appearance of the skin. But laboratory tests are needed to confirm the diagnosis. They include:
Aug. 22, 2014
- Skin biopsy for immunofluorescent mapping. With this technique, a small sample of affected skin is removed and examined to identify the layer of skin and proteins involved. This precise, reliable test is less expensive than other specialized testing options, such as electron microscopy.
- Genetic testing. Genetic testing, if it's available and affordable, is sometimes used to confirm the diagnosis because most forms of epidermolysis bullosa are inherited. A small sample of your blood will be drawn and sent to a lab for analysis.
- Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling.
- Fine JD, et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. Journal of the American Academy of Dermatology. In press. Accessed April 9, 2014.
- Pickert A, et al. Immunodermatology and blistering disorders. Journal of American Academy of Dermatology. 2013;68:AB110.
- Pride HB, et al. What's new in pediatric dermatology? Part 1. Diagnosis and pathogenesis. Journal of the American Academy of Dermatology. 2013;68:885.e2.
- Brick K, et al. Epidermolysis bullosa pruriginosa: Further clarification of the phenotype. Pediatric Dermatology. 2012;29:732.
- Lehman JS, et al. Epidermolysis bullosa acquisita: Concise review and practical considerations. International Journal of Dermatology. 2009;48:227.
- Epidermolysis bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/. Accessed April 10, 2014.
- About EB. Dystrophic Epidermolysis Bullosa Research Association of America. http://www.debra.org/abouteb. Accessed April 10, 2014.
- AskMayoExpert. Pemphigoid. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2014.
- Lebwohl MG. Treatment of Skin Disease. 4th ed. Philadelphia, Pa.: Elsevier Saunders; 2014. http://www.clinicalkey.com. Accessed April 10, 2014.
- Pope E, et al. A consensus approach to wound care in epidermolysis bullosa. Journal of the American Academy of Dermatology. 2010;67:904.
- Gonzalez ME. Evaluation and treatment of the newborn with epidermolysis bullosa. Seminars in Perinatology. 2013;37:32.
- Lakdawala N, et al. The role of nutrition in dermatologic diseases: Facts and controversies. Clinics in Dermatology. 2013;31:677.
- Jurj G, et al. Epidermolysis bullosa: Report of three cases treated with homeopathy. Homeopathy. 2011;100:264.
- Healthcare problems. Dystrophic Epidermolysis Bullosa Research Association. http://www.debra.org/healthcare. Accessed June 10, 2011. Accessed April 10, 2014.
- Hand JL (expert opinion). Mayo Clinic, Rochester, Minn. May 8, 2014.