Congenital tufting enteropathy (CTE) is an autosomal recessive disease characterized by severe intestinal failure in infancy and mutations in the epithelial cell adhesion molecule (EPCAM) gene. This rare disorder mostly occurring in young infants and children (6–18 months old), is characterized by severe diarrhea and small-intestinal mucosal atrophy resulting from immune-mediated injury. Evaluation of intestinal biopsies for pediatric enteropathy: a proposed immunohistochemical panel approach. The frameshift mutation (c.498insC) was the most common form of mutation in all CTE patients, bringing in 21 different amino acids followed by premature truncation of the protein (Q167Pfsx21) [12]. Goulet O, Salomon J, Ruemmele F, de Serres NP, Brousse N. Intestinal epithelial dysplasia (tufting enteropathy). EpCAM, formerly known as TACSTD1 or TROP1, is a type I transmembrane superficial glycoprotein antigen that is expressed on the basolateral membrane of multiple epithelial cells and plasma cells. Tufting enteropathy (also known as intestinal epithelial dysplasia) is a very rare congenital (present at birth) condition affecting the inner surface of the intestines. Tufting Enteropathy: Microvillus Inclusion Disease: Surface epithelial tufts: Apical cytoplasmic inclusions: Both may have scant inflammation with villous atrophy Enteroendocrine Cell Dysgenesis: Microvillus Inclusion Disease: Normal villi: Severe villus atrophy: Intestinal endocrine cells markedly decreased or absent: Normal intestinal endocrine cells: Normal enterocyte … Intractable diarrhea is present independent of breast or formula feeding. History. Recently, Wu et al. Histological abnormalities in the intestines of patients with CTE include villous atrophy, basement membrane abnormalities, and disorganization of enterocytes with focal crowding at the villus tips [33]. Neonatal enteropathies, by contrast, are characterized by blunting of the villi. Quantitative distribution of EPCAM mutations identified in CTE patients. Sporadic (localized variant) Occurs in individuals who do not have neurofibromatosis type 1 Painless, slowly growing, solitary, skin colored, soft, flaccid, rubbery to firm papule or nodule with a smooth surface measuring up to 2 cm Moreover, the adjacent epithelium near the tufts is usually free from apparent abnormalities [13]. 2007 Apr 20;2:20. font-family: Arial, Helvetica, sans-serif; Histological examination showed evidence of collagenous enterocolitis. Intestinal mucosal biopsies show normal architect with intact villus-crypt axis. Typically, patients develop watery diarrhea within the first days after birth and have the characteristic appearance of subtotal villous atrophy with crypt hyperplasia and tufting of the epithelial surface (7) . After analyzing previous reports on syndromic CTE and SPINT2, we found 35 mutations in SPINT2 from 6 studies (Table 3) [2, 16, 17, 29–31], including 3 noncoding/splicing mutations, 2 frameshift/truncation mutations, and 6 in-frame deletions or missense mutations. Post mortum showed a thin … Impaired epithelial adhesion may cause severe persistent diarrhoea of infancy. All authors read and approved the final manuscript. In the last decade, we have seen remarkable progress in certain aspects, such as the pathogenesis and diagnostic methods of the disease. Congenital tufting enteropathy (CTE), also named intestinal epithelial dysplasia, is a rare, autosomal recessive enteropathy with persistent and life-threatening intractable diarrhea early in life. Copyright © 2020 Changzhou Cai et al. John M. Cullen, Jerrold M. Ward and Chad M. Thompson, Reevaluation and Classification of Duodenal Lesions in B6C3F1 Mice and … Pathology Outlines Authors. Congenital diarrheal disorders (CDDs) are rare hereditary intestinal diseases that are clinically characterized by the emergence of persistent and life-threatening intractable diarrhea early in life, and most cases are caused by genetic defects [1]. However, recent experiments failed to prove the oligomerization of EpCAM protein in vitro [37] and the role of EpCAM in adhesion in carcinoma cells [38]. Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome, Department of Gastroenterology, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310003, China, Choanal atresia; ophthalmologic, hematologic, and hair abnormalities, Corneal erosions, hypertelorism, choanal atresia, imperforate anus, rectovaginal fistula, short and brittle hair, and mild psychomotor delay, Oligoarticular juvenile rheumatoid arthritis, Ophthalmic functional disorders, asymptomatic conjunctival hyperemia, Choanal atresia, hyponatremia, and superficial punctate keratitis, Superficial punctuated keratitis, choanal atresia, other atresia, dermatological anomalies, and bone malformations, Cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia, Choanal atresia, enterocutaneous fistula, atrial septal defect, cleft lip and palate, and toe abnormalities, Hepatocyte growth factor activator inhibitor type 2, G. Terrin, R. Tomaiuolo, A. Passariello et al., “Congenital diarrheal disorders: an updated diagnostic approach,”, P. Heinz-Erian, T. Müller, B. Krabichler et al., “Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea,”, R. Berni Canani, G. Terrin, G. Cardillo, R. Tomaiuolo, and G. Castaldo, “Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management,”, M. Field, “Intestinal ion transport and the pathophysiology of diarrhea,”, P. M. Sherman, D. J. Mitchell, and E. Cutz, “Neonatal enteropathies: defining the causes of protracted diarrhea of infancy,”, O. Roche, M. Putterman, J. Salomon et al., “Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy,”, M. Sivagnanam, J. L. Mueller, H. Lee et al., “Identification of EpCAM as the gene for congenital tufting enteropathy,”, A. S. Paramesh, T. Fishbein, A. Tschernia et al., “Isolated small bowel transplantation for tufting enteropathy,”, W. Tang, T. Huang, Z. Xu, and Y. Huang, “Novel mutations in EPCAM cause congenital tufting enteropathy,”, O. Goulet, M. Kedinger, N. Brousse et al., “Intractable diarrhea of infancy with epithelial and basement membrane abnormalities,”, O. Goulet, J. Salomon, F. Ruemmele, N. P. M. de Serres, and N. Brousse, “Intestinal epithelial dysplasia (tufting enteropathy),”, S. M. Al-Mayouf, N. Alswaied, F. S. Alkuraya, A. AlMehaidib, and M. Faqih, “Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation,”, R. M. Reifen, E. Cutz, A. M. Griffiths, B. Y. Ngan, and P. M. Sherman, “Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants,”, M. Sivagnanam, T. Schaible, R. Szigeti et al., “Further evidence for EpCAM as the gene for congenital tufting enteropathy,”, J. S. Ko, J. K. Seo, J. O. Shim, S. H. Hwang, H. S. Park†, and G. H. Kang†, “Tufting enteropathy with EpCAM mutations in two siblings,”, J. Salomon, O. Goulet, D. Canioni et al., “Genetic characterization of congenital tufting enteropathy: EpCAM associated phenotype and involvement of SPINT2 in the syndromic form,”, M. Sivagnanam, A. R. Janecke, T. Müller, P. Heinz-Erian, S. Taylor, and L. M. Bird, “Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea,”, W. El-Matary, A. M. Dalzell, G. Kokai, and J. E. Davidson, “Tufting enteropathy and skeletal dysplasia: is there a link?”, J. Salomon, Y. Espinosa-Parrilla, O. Goulet et al., “A founder effect at the EPCAM locus in congenital tufting enteropathy in the Arabic Gulf,”, I. W. Booth, G. Stange, H. Murer, T. R. Fenton, and P. J. Milla, “Defective jejunal brush-border Na, O. J. Goulet, N. Brousse, D. Canioni, J. We are committed to sharing findings related to COVID-19 as quickly as possible. Quantitative distribution of SPINT2 mutations identified in CTE patients. Another study showed that mutations in SPINT2 might result in SCTE due to its reduced inhibitory effect on prostasin or a prostasin-similar protease [52]. [The congenital tufting enteropathy, or when the intestine is under low cellular tension]. As examples, we illustrate epitopes localized to the apical and basolateral membranes, and the cytoplasm of enterocytes of normal small intestine and in cases of congenital enteropathies (microvillous inclusion disease and congenital tufting enteropathy). A variety of miscellaneous disorders is also considered. Histopathology 1997 Oct;31(4):313-7 Histopathology 1997 Oct;31(4):313-7 Ilyas M, Niedobitek G, Agathanggelou A, Barry RE, Read AE, Tierney R, Young LS, Rooney N. Non-Hodgkin's lymphoma, coeliac disease, and Epstein-Barr virus: a study of 13 cases of enteropathy-associated T- and B-cell … CTE: congenital tufting enteropathy; PN: parenteral nutrition; ITx: intestinal transplantation. They developed chronic diarrhea and … The primary clinical manifestation of CDD is severe chronic diarrhea, which is, in some cases, only part of a series of more complex systemic symptoms [2]. Natural killer cell enteropathy, also termed NK cell enteropathy (NKCE), and a closely related disorder, lymphomatoid gastropathy (LG), are non-malignant diseases in which one type of lymphocyte, the natural killer cell (i.e. Enteropathy-associated T-cell lymphoma; Diagnosis in short: Enteropathy-associated T cell lymphoma. Mice [ 52 ] or formula feeding a five cases of intractable tufting enteropathy pathology outlines four of whom died study could observed. 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