Desquamative enterocolitis: an intestinal variant of Carmi syndrome presenting as protein-losing enteropathy.

Carmi syndrome is a rare autosomal recessive disorder comprising congenital pyloric atresia (PA) and epidermolysis bullosa (EB). This association (EB–PA) was described by Swinborne and Kolher in 1968, whereas the genetic analysis was contributed by Carmi and hence the name.1 The basic feature is a defect affecting the integrity of the basement membrane and hemidesmosomes and the control over the normal process of fibrosis which occurs during wound healing. It is associated with a high mortality and the majority of patients succumb to sepsis, dyselectrolytemia and hypoproteinemia. We report a 2year-old boy with desquamative enterocolitis, an intestinal variant of this EB–PA syndrome presenting as proteinlosing enteropathy (PLE).