[Skip to Navigation]
May 2016

Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa

Author Affiliations
  • 1Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania
  • 2Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
JAMA Dermatol. 2016;152(5):517-520. doi:10.1001/jamadermatol.2015.5237

Epidermolysis bullosa (EB) comprises a clinically heterogeneous group of disorders characterized by fragility of skin, leading to formation of blisters, erosions, and chronic ulcers. The cutaneous manifestations, together with extracutaneous complications, cause considerable morbidity and in some cases premature death.1,2 Epidermolysis bullosa is an orphan disease (defined in the United States as a diagnosis with < 200 000 affected individuals), yet there are up to 40 000 affected individuals in the United States and as many as half a million patients globally. The disease is characteristically diagnosed at birth or during the early postnatal period, and there is currently no effective and specific treatment beyond prevention of trauma, appropriate wound care, and prevention of infections. Thus, EB imposes a major burden for global health care, and the cost of the treatment of a severely affected patient in the United States can approach $300 000 per year (email communication; November 24, 2015; Brett Kopelan, executive director of the dystrophic epidermolysis bullosa research association [DEBRA] of America).

Add or change institution