title: Gastrointestinal involvement in a woman with dyskeratosis congenita.
abstract: Dyskeratosis congenita (DC) is a rare hereditary condition with characteristic dermatological findings and is frequently associated with the development of pancytopenia. Involvement of the gastrointestinal tract and liver occurs in a significant proportion of patients. Although the disorder is transmitted in an X-linked fashion, several affected females have been described. We report a case of DC involving a woman in whom gastrointestinal symptoms were prominent, primarily diarrhea, gastrointestinal hemorrhage, and ascites. Portal hypertension was evident by the presence of splenorenal varices. Extensive evaluation failed to disclose an etiology for either her colitis or portal hypertension. The literature concerning gastrointestinal involvement in DC is reviewed and a possible association with noncirrhotic portal hypertension is suggested.
authors.affiliation: Department of Internal Medicine, University of Virginia Health Sciences Center, Charlottesville.
authors.forename: K E
authors.initials: KE
authors.lastname: Brown
authors.forename: T E
authors.initials: TE
authors.lastname: Kelly
authors.forename: B M
authors.initials: BM
authors.lastname: Myers
mesh_terms: D000328:Adult; D003106:Colon / Q000473:pathology; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications* / Q000473:pathology; D006801:Humans; D006975:Hypertension, Portal / Q000150:complications; D008099:Liver / Q000473:pathology; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology