Saudi Journal of Gastroenterology
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Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia

1 Department of Pediatric Gastroenterology, Intestinal Failure Program, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
2 Department of Pediatric Gastroenterology, King Abdulaziz Medical City, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia
3 Department of Pediatric Gastroenterology, IABF Hospital of National Guard, Dammam, Saudi Arabia
4 Department of Pediatric Gastroenterology, King Abdulaziz Medical City, Ministry of National Guard, Health Affairs, Riyadh, Saudi Arabia
5 The Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical City; Alfaisal University, College of Medicine; Prince Abdullah bin Khalid Celiac Disease Research Chair, Department of Pediatrics, Faculty of Medicine, King Saud University, Riyadh, Saudi Arabia
6 Department of Pediatric Gastroenterology, Security Forces Hospital, Riyadh, Saudi Arabia
7 Department of Pediatric Gastroenterology, King Saud Medical City, Riyadh, Saudi Arabia
8 Department of Pediatric Gastroenterology, King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia
9 Department of Pediatric Gastroenterology, Maternity and Children's Hospital, Makkah, Saudi Arabia

Correspondence Address:
Badr M Alsaleem,
Pediatric Consultant Gastroenterologist, King Fahad Medical City, Children's Hospital, Intestinal Failure Program, Riyadh, Saudi Arabia
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/sjg.sjg_200_21

PMID: 34414925

Background: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to the small number of reported cases. Methods: Thirty patients diagnosed with THES, all molecularly confirmed by whole exome sequencing (WES) to have biallelic variants in TTC37 or SKIV2L, were included in the study. Clinical, biochemical, and nutritional phenotypes and outcome data were collected from all participants. Results: The median age of THES patients was 3.7 years (0.9–23 years). Diarrhea and malnutrition were the most common clinical features (100%). Other common features included hair abnormalities (96%), skin hyperpigmentation (87%), facial dysmorphic abnormalities (73%), psychomotor retardation (57%), and hepatic abnormalities (30%). Twenty-five patients required parenteral nutrition (83%) with a mean duration of 13.34 months, and nearly half were eventually weaned off. Parenteral nutrition was associated with a poor prognosis. The vast majority of cases (89.6%) had biallelic variants in SKIV2L, with biallelic variants in TTC37 accounting for the remaining cases. A total of seven variants were identified in TTC37 (n = 3) and SKIV2L (n = 4). The underlying genotype influenced some phenotypic aspects, especially liver involvement, which was more common in TTC37-related THES. Conclusion: Our data helps define the natural history of THES and provide clinical management guidelines.

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    -  Alsaleem BM
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