Tricho-hepato-enteric syndrome

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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.

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.

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