%0 Journal Article
%T Syndromic diarrhea/Tricho-hepato-enteric syndrome
%A Fabre Alexandre
%A Martinez-Vinson Christine
%A Goulet Olivier
%A Badens Catherine
%J Orphanet Journal of Rare Diseases
%D 2013
%I BioMed Central
%R 10.1186/1750-1172-8-5
%X Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. in French Les diarrh¨¦es syndromiques ou syndrome tricho-hepato-enterique (SD/THE) sont un syndrome rare et s¨¦v¨¨re dont l¡¯incidence est estim¨¦e ¨¤ 1 cas pour 1 million de naissances et la transmission autosomique r¨¦cessive. La forme typique associe 5 signes cliniques: une diarrh¨¦e grave rebelle n¨¦cessitant dans la majorit¨¦ des cas une nutrition parent¨¦rale du fait de la malnutrition, une dysmorphie avec un front large et bomb¨¦, une racine du nez large et un hypert¨¦lorisme, des anomalies des cheveux qui sont fragiles, cassants, incoiffables et qualifi¨¦s de   laineux  , un retard de croissance intra ut¨¦rine et des anomalies de l¡¯immunit¨¦ ¨¤ type de d¨¦ficit en immunoglobuline ou d¡¯absence de r¨¦ponse aux antig¨¨nes vaccinaux. Des anomalies de deux prot¨¦ines peuvent ¨ºtre ¨¤ l¡¯origine du syndrome SD/THE: TTC37, une prot¨¦ine ¨¤ mot
%K SKI COMPLEX
%K SKIV2L
%K TTC37
%K WDR61
%K SKI3
%K SKI2
%K SKI8
%K Intractable diarrhea
%K Syndromic diarrhea
%K Tricho-hepato-enteric syndrome
%K Woolly hair
%U http://www.ojrd.com/content/8/1/5