Tricho-hepato-enteric syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]
Overview
It is a rare genetic disorder presenting in children less than 1 year of age.[1]
Pathophysiology
- It is a genetic disorder with an autosomal recessive inheritance pattern.
- Mutations in TTC37 which encodes the putative protein Thespin, have recently been associated with Tricho-Hepato-Enteric syndrome. [2]
Diagnosis
Symptoms
- Intractable diarrhea
- Intrauterine growth retardation
- Hair abnormalities - prominent forehead and cheeks, a broad nasal root and widely spaces eyes (hypertelorism)
- Facial abnormalities - their hairs are woolly, easily removed and poorly pigmented
Laboratory Tests
Biopsy
- Small bowel - villous atrophy with low or no mononuclear cell infiltration of the lamina propria
- Microscopic analysis of the hair - twisted hairs of unequal size and different shapes
Other Diagnostic studies
- Scanning electron microscopy of hair - hair budding
- Biochemical analysis of hair reveal - sulfur-deficient brittle hair
- Abnormal antibody generation - T cell dysfuntion