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Brief Report

Herlitz Junctional Epidermolysis Bullosa with a Novel Mutation in LAMB3

  1. Ashley Kittridge D.O.1,
  2. Riddhi Patel B.S, O.M.S.I.V.2,
  3. Roberto Novoa M.D.1,
  4. Joan Tamburro D.O.1,3,*

Article first published online: 26 DEC 2012

DOI: 10.1111/pde.12018

Additional Information

How to Cite

Kittridge, A., Patel, R., Novoa, R. and Tamburro, J. (2012), Herlitz Junctional Epidermolysis Bullosa with a Novel Mutation in LAMB3. Pediatric Dermatology. doi: 10.1111/pde.12018

Author Information

  1. 1

    Department of Dermatology, University Hospitals/Case Medical Center, Cleveland, Ohio

  2. 2

    Chicago College of Osteopathic Medicine, Midwestern University, Downers Grove, IL

  3. 3

    Department of Pediatrics, University Hospitals/Case Medical Center, Cleveland, Ohio

*Address correspondence to Joan Tamburro, Department of Dermatology, 11100 Euclid Ave, Cleveland, OH 44106, or e-mail: joan.tamburro@gmail.com.

Publication History

  1. Article first published online: 26 DEC 2012

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Abstract

Herlitz junctional epidermolysis bullosa (H-JEB) is a rare, heritable mechanobullous disease that affects infants at birth and causes early death. This disease is primarily caused by compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin-332 (formerly laminin-5) protein. Here we report a case of H-JEB with a novel heterozygous mutation in LAMB3,c.1597G>A (p.Ala533Thr). These findings attest to the molecular heterogeneity of JEB and emphasize the importance of genetic analysis to help make an accurate diagnosis, predict clinical prognosis, and identify phenotypic-genotypic relationships that may aid in prenatal diagnosis and genetic counseling for the future.

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