Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder

Tricho-hepato-enteric syndrome and syndromic diarrhea are quite rare conditions with only 15 patients described to date. Both include severe diarrhea requiring total parenteral nutrition, facial dysmorphism, immunity defect, and hair abnormalities (mostly trichorrhexis nodosa). A definite clear clinical description of the two syndromes is lacking; the outcome is also poorly known. Here, we report on two additional patients. Analysis of our observations together with a review of previously published cases suggests that patients with tricho-hepato-enteric syndrome and/or syndromic diarrhea actually have the same heterogeneous disease that has been incorrectly and confusingly separated into different entities. The acknowledgment that these two syndromes represent the same disease is a crucial step toward a better description of this syndrome and its outcome toward studies of the underlying genetic cause.