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February 20, 2019

A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement

Author Affiliations
  • 1Department of Dermatology, Emek Medical Center, Afula, Israel
  • 2Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel
  • 3Department of Dermatology and Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois
  • 4The Genetic Institute, Emek Medical Center, Afula, Israel
  • 5Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
JAMA Dermatol. 2019;155(4):498-500. doi:10.1001/jamadermatol.2018.5368

Junctional epidermolysis bullosa (EB) with renal and respiratory involvement (junctional EB-RR) is a rare variant of EB caused by biallelic mutations in the integrin α3 (ITGA3) gene. It is characterized by congenital nephrotic syndrome and interstitial lung disease and is associated with premature death.1-5 We report a case of junctional EB-RR limited to the skin and mucosa.

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