Tricho-hepato-enteric syndrome presenting with mild colitis.
BACKGROUND
A four and half-year-old girl was admitted to our clinic with the complaints of diarrhea since birth and failure to thrive.


CONCLUSIONS
The characteristic findings in physical examination were facial dysmorphism, hepatomegaly, and wooly hair. Trichorrhexis nodosa was established in microscopic hair examination. Colonoscopy and histopathologic examination of colonic mucosa revealed mild colitis. In the light of previously published cases, this patient was accepted as a mild variant of syndromic (phenotypic) diarrhea or tricho-hepato-enteric syndrome. We conclude that a mild phenotypic variant of this disease exists that may present with colitis.
Egritas
Odul
O
Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey. odulmd2003@yahoo.com
Dalgic
Buket
B
Onder
Meltem
M
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003092:Colitis / Q000209:etiology*; D003967:Diarrhea / Q000151:congenital*; D005145:Face / Q000002:abnormalities*; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008107:Liver Diseases; D013577:Syndrome