About Epidermolysis Bullosa

Diagnosis

How is EBS Diagnosed?

Initial diagnosis for EBS typically occurs at birth and is based on the skin’s appearance. Mild EBS can be diagnosed into adulthood. Less severe EBS is thought to be underdiagnosed or potentially misdiagnosed as other skin blistering disorders.1 Severe EBS may initially be misdiagnosed as Dystrophic EB (DEB). Genetic confirmation is encouraged to help healthcare professionals develop optimal therapies and is often required for enrollment in clinical trials.

The following test can be performed to confirm diagnosis:

  • Genetic testing. DNA analysis from a blood or saliva sample can provide your physician with your exact genetic mutation and help determine your eligibility for current and future clinical trials.
  • Prenatal testing.2 Prenatal testing involves both genetic testing and meeting with a genetic counselor. It focuses on your family’s history of EB and how that might affect your family planning.
  • Immunofluorescence mapping.3 A small biopsy sample of affected skin is taken and examined with a combination of antibodies and a special microscope. It helps your doctor to determine which layers of your skin are affected by EB. This test also identifies whether the proteins needed for skin growth are present and healthy. While not as definitive as genetic testing, it can give your doctor a strong indication of your type of EB until genetic testing can be completed.

References arrow-up arrow-down

  1. Has C. Advances in understanding the molecular basis of skin fragility. F1000Research. 2018;7:279. doi:10.12688/f1000research.12658.1
  2. Sybert VP, Holbrook KA. Prenatal Diagnosis and Genetic Screening for Epidermolysis Bullosa. In: Lin AN, Carter DM, eds. Epidermolysis Bullosa: Basic and Clinical Aspects. Springer; 1992:235-251. doi:10.1007/978-1-4612-2914-8_19
  3. Yiasemides E, Walton J, Marr P, Villanueva EV, Murrell DF. A Comparative Study Between Transmission Electron Microscopy and Immunofluorescence Mapping in the Diagnosis of Epidermolysis Bullosa. Am J Dermatopathol. 2006;28(5):387-394. doi:10.1097/01.dad.0000211510.44865.6d

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