referring practitioner: Emmanuelle Dugelay
emmanuelle.dugelay@aphp.fr

Summary of the study

Trichohepatoenteric syndrome (THES) is a rare disease caused by a mutation in the TTC37 or SKIV2L genes, encoding a protein involved in the regulation of mRNA. It causes early congenital enteropathy, associated with other more or less constant signs: facial dysmorphism, hair abnormality, intrauterine growth retardation, liver disease, immune deficiency, skin lesions, heart abnormalities, platelet abnormalities. The histological characteristics have been little reported and show nonspecific lesions (mild or moderate villous atrophy, infiltration of the chorion).

The aim of this study is to describe the histological lesions observed in THES and to correlate them with phenotypic and genotypic characteristics. We will carry out a retrospective multicentre descriptive study including patients with THES. The digestive biopsies performed at diagnosis and during follow-up will all be reviewed by the same pathologist from the coordinating centre at the Robert Debré Hospital. Medical data will be collected in the patient’s file, with the agreement of each centre, using an e-CRF.

Status:

Study completed, results not yet published.