Tufting enteropathy

Congenital tufting enteropathy, also called intestinal epithelial dysplasia, is a rare autosomal recessive enteropathy. Its typical form is linked to mutations in the gene for epithelial cell adhesion molecule (EpCAM) and usually causes isolated, refractory diarrhea. It is one of the congenital enteropathies considered when diarrhea begins in early infancy. Early biopsies can lack the characteristic tufts, so immunohistochemical staining for EpCAM may be needed to confirm it.