Tricho-hepato-enteric syndrome

Jump to navigation Jump to search

WikiDoc Resources for Tricho-hepato-enteric syndrome

Articles

Most recent articles on Tricho-hepato-enteric syndrome

Most cited articles on Tricho-hepato-enteric syndrome

Review articles on Tricho-hepato-enteric syndrome

Articles on Tricho-hepato-enteric syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Tricho-hepato-enteric syndrome

Images of Tricho-hepato-enteric syndrome

Photos of Tricho-hepato-enteric syndrome

Podcasts & MP3s on Tricho-hepato-enteric syndrome

Videos on Tricho-hepato-enteric syndrome

Evidence Based Medicine

Cochrane Collaboration on Tricho-hepato-enteric syndrome

Bandolier on Tricho-hepato-enteric syndrome

TRIP on Tricho-hepato-enteric syndrome

Clinical Trials

Ongoing Trials on Tricho-hepato-enteric syndrome at Clinical Trials.gov

Trial results on Tricho-hepato-enteric syndrome

Clinical Trials on Tricho-hepato-enteric syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Tricho-hepato-enteric syndrome

NICE Guidance on Tricho-hepato-enteric syndrome

NHS PRODIGY Guidance

FDA on Tricho-hepato-enteric syndrome

CDC on Tricho-hepato-enteric syndrome

Books

Books on Tricho-hepato-enteric syndrome

News

Tricho-hepato-enteric syndrome in the news

Be alerted to news on Tricho-hepato-enteric syndrome

News trends on Tricho-hepato-enteric syndrome

Commentary

Blogs on Tricho-hepato-enteric syndrome

Definitions

Definitions of Tricho-hepato-enteric syndrome

Patient Resources / Community

Patient resources on Tricho-hepato-enteric syndrome

Discussion groups on Tricho-hepato-enteric syndrome

Patient Handouts on Tricho-hepato-enteric syndrome

Directions to Hospitals Treating Tricho-hepato-enteric syndrome

Risk calculators and risk factors for Tricho-hepato-enteric syndrome

Healthcare Provider Resources

Symptoms of Tricho-hepato-enteric syndrome

Causes & Risk Factors for Tricho-hepato-enteric syndrome

Diagnostic studies for Tricho-hepato-enteric syndrome

Treatment of Tricho-hepato-enteric syndrome

Continuing Medical Education (CME)

CME Programs on Tricho-hepato-enteric syndrome

International

Tricho-hepato-enteric syndrome en Espanol

Tricho-hepato-enteric syndrome en Francais

Business

Tricho-hepato-enteric syndrome in the Marketplace

Patents on Tricho-hepato-enteric syndrome

Experimental / Informatics

List of terms related to 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]

Natural History, Complications and Prognosis

  • Prognosis is poor.
  • Many patients die before the age of 5 due to infections or cirrhosis.

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

Treatment

  • No specific treatment
  • Total parenteral nutrition may reduce symptoms of diarrhea
  • Avoiding further damage to the liver

References

Template:WH

Template:WS