Abstract
Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an earlyonset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE is characterized by clinical and histological heterogeneity, such as with low or without mononuclear cell infiltration of the lamina propria, and abnormalities of basement membrane. TE can be associated with malformations, other epithelial diseases, or to abnormal enterocytes development and/or differentiation. The authors report a case of a Brazilian child with TE associated with c.556-14A>G mutation in the EpCAM gene (NM_002354.2).
Highlights
Tufting enteropathy (TE), known as intestinal epithelial dysplasia (IED), is a rare disorder that causes chronic watery diarrhea, and is characterized by the presence of focal epithelial “tufts” composed of clusters of closely packed enterocytes with round, teardrop-shaped projections in the apical cytoplasm
Mutations in the epithelial cell adhesion molecule (EpCAM) gene have been associated with TE
EpCAM acts as a typical cell-cell adhesion molecule, once it is connected to the actin cytoskeleton, and mediates homotypic interactions between intraepithelial lymphocytes and intestinal epithelial cells, during the origination of the innate immune system[6, 8,11,13, 21]
Summary
Enteropatia com formação de tufos epiteliais e mutação do gene EpCAM: relato de caso. Karla Lais Pêgas; Eduardo Cambruzzi; Regis Schander Ferrelli; Carolina Soares da Silva; Renata Rostirola Guedes; Marina Adami; Eduardo Montagner Dias; Melina Utz Melere; Marilia Rosso Ceza; Cintia Steinhaus; Matias Epifanio; Julie Salomon; Cristina Targa Ferreira abstract. Tufting enteropathy (TE), known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an earlyonset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE can be associated with malformations, other epithelial diseases, or to abnormal enterocytes development and/or differentiation. The authors report a case of a Brazilian child with TE associated with c.556-14A>G mutation in the EpCAM gene (NM_002354.2)
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