Exocrine pancreatic insufficiency: a pancreatic variant of Carmi syndrome?

Abstract

Introduction: Junctional epidermolysis bullosa (JEB) is a rare genodermatosis. Deep organ involvement, particularly of the pancreas, has not been reported in the literature. Case report: A three-year-old boy followed for JEB from the first week of life. At age two, he developed chronic diarrhea with hypotrophy related to exocrine pancreatic insufficiency. Cystic fibrosis was suspected but sweat test was negative. Treatment with pancreatic extracts resulted in marked improvement. He also presented urinary tract involvement. Conclusion: This observation describes a new association of JEB with urinary tract involvement and exocrine pancreatic insufficiency, likely a pancreatic variant of Carmi syndrome.