Tricho-hepato-enteric syndrome

Infobox Disease
Name = PAGENAME


Caption = Typical facial abnormalities with prominent forehead and cheeks, broad nasal root and wide-spaced eyes. Abnormal hairs are woolly, easily removed and poorly pigmented.
DiseasesDB =
ICD10 =
ICD9 =
ICDO =
OMIM = 222470
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities.cite journal |author=Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP |title=Syndromic (phenotypic) diarrhea in early infancy |journal=Orphanet J Rare Dis |volume=3 |issue= |pages=6 |year=2008 |pmid=18304370 |pmc=2279108 |doi=10.1186/1750-1172-3-6 |url=http://www.ojrd.com/content/3//6] Many also have liver disease and abnormalities of the immune system. The associated malabsorption leads to malnutrition and failure to thrive.

It is thought to be a genetic disorder with an autosomal recessive inheritance pattern, although responsible genes have not been found and the exact cause remains unknown. Prognosis is poor; many patients die before the age of 5 (mainly from infections or cirrhosis), although most patients nowadays survive with intravenous feeding (parenteral nutrition).

ynonyms

It is now recognized that the following conditions constitute one and the same diseasecite journal |author=Fabre A, André N, Breton A, Broué P, Badens C, Roquelaure B |title=Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder |journal=Am. J. Med. Genet. A |volume=143 |issue=6 |pages=584–8 |year=2007 |month=March |pmid=17318842 |doi=10.1002/ajmg.a.31634 |url=http://dx.doi.org/10.1002/ajmg.a.31634] : intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa and cirrhosis, neonatal hemochromatosis phenotype with intractable diarrhea and hair abnormalities, and intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency.

ymptoms

Tricho-hepato-enteric syndrome is one particular form of intractable diarrhea of infancy, presenting typically in the first month of life. These babies were usually born small for their age and continue to experience failure to thrive, usually with a final short stature. Typical facial features include prominent forehead and cheeks, a broad nasal root and widely spaces eyes (hypertelorism). Their hairs are woolly, easily removed and poorly pigmented. Liver disease is mainly present as cirrhosis or fibrosis, and staining might reveal high iron content of the liver cells (consistent with hemochromatosis).cite journal |author=Verloes A, Lombet J, Lambert Y, "et al" |title=Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies |journal=Am. J. Med. Genet. |volume=68 |issue=4 |pages=391–5 |year=1997 |month=February |pmid=9021008 |doi= |url=http://dx.doi.org/10.1002/(SICI)1096-8628(19970211)68:4<391::AID-AJMG3>3.0.CO;2-P] Most evaluated patients had some degree of decrease in intelligence.

Diagnosis

Microscopic examination of a biopsy of the small bowel in these patients shows villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific abnormalities involving the epithelium. The amount of villous atrophy does not explain the severity of the diarrhea. Microscopic analysis of the hair shows twisted hairs of unequal size and different shapes (pili torti, aniso- and poikilotrichosis), longitudinal breaks and breaks located at nodes (trichorrhexis nodosa). Scanning electron microscopy might reveal hair budding (trichorrhexis blastysis). Biochemical analysis might reveal sulfur-deficient brittle hair (trichothiodystrophy; note that disulfide bonds determine hair waviness). Immune deficiency has been reported under the form of T cell dysfunction and abnormal antibody generation.

Treatment

No specific treatment or cure exists. Affected children usually need total parenteral nutrition through a central venous catheter. Further worsening of liver damage should however be avoided if possible. Diarrhea will likely continue even though food stops passing through the gastrointestinal system.cite journal |author=Girault D, Goulet O, Le Deist F, "et al" |title=Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency |journal=J. Pediatr. |volume=125 |issue=1 |pages=36–42 |year=1994 |month=July |pmid=8021782 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/S0022347694001022] They can subsequently be managed with tube feeding, and some may be weaned from nutritional support during adolescence.

Epidemiology

Tricho-hepato-enteric syndrome is estimated to affect 1 in 300,000 to 400,000 live births in Western Europe. This syndrome was first reported in 1982 with a report on 2 siblings,cite journal |author=Stankler L, Lloyd D, Pollitt RJ, Gray ES, Thom H, Russell G |title=Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome |journal=Arch. Dis. Child. |volume=57 |issue=3 |pages=212–6 |year=1982 |month=March |pmid=7073301 |pmc=1627586 |doi= |url=] and as of 2008 there were around 25 published cases in medical journals. There seem to be no racial differences in its occurrence. It might be more common, as many genetic diseases, in areas with high levels of consanguinity.

Footnotes

References

*cite journal |author=Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP |title=Syndromic (phenotypic) diarrhea in early infancy |journal=Orphanet J Rare Dis |volume=3 |issue= |pages=6 |year=2008 |pmid=18304370 |pmc=2279108 |doi=10.1186/1750-1172-3-6 |url=http://www.ojrd.com/content/3//6