Official reprint from UpToDate®
www.uptodate.com ©2017 UpToDate, Inc. and/or its affiliates. All Rights Reserved.

Diagnosis of epidermolysis bullosa

Anna L Bruckner, MD
Dedee F Murrell, MD
Section Editor
Jennifer L Hand, MD
Deputy Editor
Rosamaria Corona, MD, DSc


Epidermolysis bullosa (EB) includes a heterogeneous group of inherited disorders with the common finding of epithelial fragility. The skin, and in some cases the mucosa, develops blisters and/or erosions in response to minimal frictional trauma. Four major EB types are recognized on the basis of the ultrastructural level of skin cleavage (figure 1):

EB simplex (intraepidermal)

Junctional EB (intra-lamina lucida)

Dystrophic EB (sub-lamina densa)

Kindler syndrome (intraepidermal, intra-lamina lucida, and sub-lamina densa)

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:

Subscribers log in here

Literature review current through: Oct 2017. | This topic last updated: May 11, 2017.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2017 UpToDate, Inc.
  1. Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58:931.
  2. Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70:1103.
  3. Schwieger-Briel A, Moellmann C, Mattulat B, et al. Bullous pemphigoid in infants: characteristics, diagnosis and treatment. Orphanet J Rare Dis 2014; 9:185.
  4. www.beutnerlabs.com/request/biopsy-sites.php (Accessed on August 15, 2011).
  5. Intong LR, Murrell DF. How to take skin biopsies for epidermolysis bullosa. Dermatol Clin 2010; 28:197.
  6. Michel B, Milner Y, David K. Preservation of tissue-fixed immunoglobulins in skin biopsies of patients with lupus erythematosus and bullous diseases--preliminary report. J Invest Dermatol 1972; 59:449.
  7. Yiasemides E, Walton J, Marr P, et al. A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa. Am J Dermatopathol 2006; 28:387.
  8. Pohla-Gubo G, Cepeda-Valdes R, Hintner H. Immunofluorescence mapping for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010; 28:201.
  9. Pasmooij AM, Pas HH, Bolling MC, Jonkman MF. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Invest 2007; 117:1240.
  10. Pasmooij AM, Pas HH, Deviaene FC, et al. Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am J Hum Genet 2005; 77:727.
  11. Pasmooij AM, Garcia M, Escamez MJ, et al. Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2010; 130:2407.
  12. Nakano A, Chao SC, Pulkkinen L, et al. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet 2002; 110:41.
  13. PEARSON RW. Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol 1962; 39:551.
  14. Eady RA, Dopping-Hepenstal PJ. Transmission electron microscopy for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010; 28:211.
  15. Fine JD, Smith LT. Nonmolecular diagnostic testing of inherited epidermolysis bullosa. In: Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry, Fine JD, Bauer EA, McGuire J, et al (Eds), The Johns Hopkins University Press, Baltimore 1999. p.48.
  16. Petronius D, Bergman R, Ben Izhak O, et al. A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa. Am J Dermatopathol 2003; 25:198.
  17. Pigors M, Kiritsi D, Krümpelmann S, et al. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 2011; 20:1811.
  18. Groves RW, Liu L, Dopping-Hepenstal PJ, et al. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 2010; 130:1551.
  19. Castiglia D, Zambruno G. Molecular testing in epidermolysis bullosa. Dermatol Clin 2010; 28:223.
  20. Bolling MC, Lemmink HH, Jansen GH, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol 2011; 164:637.
  21. Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008; 17:553.
  22. Has C. Molecular genetic assays for inherited epidermolysis bullosa. Clin Dermatol 2011; 29:420.
  23. Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatol Clin 2010; 28:119.
  24. Mallipeddi R, Bleck O, Mellerio JE, et al. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. Br J Dermatol 2003; 149:810.
  25. Fassihi H, McGrath JA. Prenatal diagnosis of epidermolysis bullosa. Dermatol Clin 2010; 28:231.
  26. Pfendner EG, Nakano A, Pulkkinen L, et al. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn 2003; 23:447.
  27. Fassihi H, Liu L, Renwick PJ, et al. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol 2010; 162:1330.