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Epidermolysis Bullosa

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Abstract

Epidermolysis bullosa is a family of inherited blistering skin disorders characterized by blister formation in response to mechanical trauma. Major types of epidermolysis bullosa include epidermolysis bullosa simplex, hemidesmosomal epidermolysis bullosa, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa.

Current treatment for epidermolysis bullosa consists of supportive care for skin and other organ systems and entails a combination of wound management, infection support for chronic wounds, surgical management as needed, nutritional support, and preventative screening for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. The regimen must be tailored specifically to the severity and extent of skin and systemic involvement in each case.

Recent studies have identified specific protein and genetic abnormalities for most epidermolysis bullosa subtypes. These new advancements in the understanding of molecular pathophysiology have provided much of the basis for current efforts to develop effective gene and protein therapy for epidermolysis bullosa.

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Acknowledgments

The authors would like to gratefully acknowledge the assistance of Eric Lin and Nancy Griffiths in the preparation of this manuscript, the funding assistance of the Palo Alto VA Health Care System and NIH grants P01-44102 and R01-AR47223, and the support and encouragement of the Epidermolysis Bullosa Medical Research Foundation.

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  1. Department of Dermatology, Stanford University School of Medicine, RM 2145a, CCSR Building, Stanford, California, 94305, USA

    Shan Pai &  M. Peter Marinkovich

  2. Palo Alto VA Medical Center, Palo Alto, California, USA

    Shan Pai &  M. Peter Marinkovich

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Correspondence to M. Peter Marinkovich.

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Pai, S., Marinkovich, M.P. Epidermolysis Bullosa. Am J Clin Dermatol 3, 371–380 (2002). https://doi.org/10.2165/00128071-200203060-00001

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