Tufting enteropathy with EpCAM mutation: case report

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).

Bibliographic Details

Main Authors:	Pêgas,Karla Lais, Cambruzzi,Eduardo, Ferrelli,Regis Schander, Silva,Carolina Soares da, Guedes,Renata Rostirola, Adami,Marina, Dias,Eduardo Montagner, Melere,Melina Utz, Ceza,Marilia Rosso, Steinhaus,Cintia, Epifanio,Matias, Salomon,Julie, Ferreira,Cristina Targa
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Patologia Clínica 2014
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442014000300234
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