Trichohepatoenteric Syndrome: A Rare Cause of Congenital Diarrhea
Article Information
Journal :
Volume :
Issue :
Abstract
Trichohepatoenteric syndrome (THES) is inherited syndrome that characterized by early onset chronic diarrhea, hair abnormalities, dysmorphic features, and liver disease. THES is caused by pathogenic variant mutation within TTC37 or SKIV2L genes. We, herein, describe a case of 1-month-old girl with no dysmorphic features, unexplained chronic diarrhea, and loss of weight, diffuse fragile hair and skin abnormalities.
New Things Will Always
Update Regularly
