Pathology of the Gastrointestinal Tract

2017 Edition
| Editors: Fátima Carneiro, Paula Chaves, Arzu Ensari

Tufting Enteropathy

  • Arzu EnsariEmail author
Reference work entry


Congenital enteropathy; Congenital familial intractable diarrhea with enterocytes assembly abnormalities; Congenital tufting enteropathy; Intestinal epithelial dysplasia


Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a congenital enteropathy presenting with early-onset severe intractable diarrhea and persistent villous atrophy with low or no mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. TE is a rare cause of severe diarrhea in the first week of life accompanied with various dysmorphic features including choanal atresia, oesophageal/rectal atresia in some of the affected infants. Nonspecific punctuated keratitis was reported in more than 60% of patients. TE is characterized by clinical and histological heterogeneity and association with malformations or other epithelial diseases. It is thought to be related to abnormal enterocytes development and/or...

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References and Further Reading

  1. Goulet, O., Salomon, J., Ruemmele, F., de Serres, N. P., & Brousse, N. (2007). Intestinal epithelial dysplasia (tufting enteropathy). Orphanet Journal of Rare Diseases, 2, 20.CrossRefGoogle Scholar
  2. Lemale, J., Coulomb, A., Dubern, B., Boudjemaa, S., Viola, S., Josset, P., Tounian, P., & Girardet, J. P. (2011). Intractable diarrhea with tufting enteropathy: A favorable outcome is possible. Journal of Pediatric Gastroenterology and Nutrition, 52(6), 734–739.CrossRefGoogle Scholar
  3. Reifen, R. M., Cutz, E., Griffiths, A. M., Ngan, B. Y., & Sherman, P. M. (1994). Tufting enteropathy: A newly recognized clinicopathological entity associated with refractory diarrhea in infants. Journal of Pediatric Gastroenterology and Nutrition, 18, 379–385.CrossRefGoogle Scholar
  4. Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., & Giepmans, B. N. (2013). Absence of cell-surface EpCAM in congenital tufting enteropathy. Human Molecular Genetics, 22(13), 2566–2571.CrossRefGoogle Scholar
  5. Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B. Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., & Hoffman, H. M. (2008). Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology, 135(2), 429–437.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Department of PathologyAnkara University Medical SchoolSihhiyeTurkey