Tricho-hepato-enteric syndrome

Definition:

Tricho-hepato-enteric syndrome (THE), also known as syndromic diarrhea (SD), is a congenital enteropathy presenting with early-onset severe intractable diarrhea and associated with non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific histological abnormalities involving the epithelium. Infants are born small for gestational age. Patients present with facial dysmorphism, immune disorders and, in some patients, early onset of severe liver cirrhosis. It has been linked to abnormalities in two components of the putative human ski complex: SKIV2L and TTC37. During their clinical course, most of the patients require parenteral nutrition and often immunoglobulin supplementation.

References:

[1]. Alexandre Fabre, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012 Apr 6;90(4):689-92. [Content Brief]

[2]. Alexandre Fabre, et al. Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. Arch Dis Child. 2014 Jan;99(1):35-8. [Content Brief]

[3]. Alexandre Fabre, et al. Syndromic diarrhea/Tricho-hepato-enteric syndrome. Orphanet J Rare Dis. 2013 Jan 9;8:5. [Content Brief]

[4]. Jane Louise Hartley, et al. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. [Content Brief]

[5]. Jin Ho Chong, et al. Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. Eur J Pediatr. 2015 Oct;174(10):1405-11. [Content Brief]

[6]. Olivier Goulet, et al. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare Dis. 2008 Feb 28;3:6. [Content Brief]

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