Journal article
Gastrointestinal involvement in a woman with dyskeratosis congenita
Digestive diseases and sciences, Vol.38(1), pp.181-184
01/1993
DOI: 10.1007/BF01296794
PMID: 8420755
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.
Details
- Title: Subtitle
- Gastrointestinal involvement in a woman with dyskeratosis congenita
- Creators
- Kyle E BrownThaddeus E KellyBrent M Myers
- Resource Type
- Journal article
- Publication Details
- Digestive diseases and sciences, Vol.38(1), pp.181-184
- DOI
- 10.1007/BF01296794
- PMID
- 8420755
- ISSN
- 0163-2116
- eISSN
- 1573-2568
- Language
- English
- Date published
- 01/1993
- Academic Unit
- Gastroenterology and Hepatology; Radiation Oncology; Internal Medicine
- Record Identifier
- 9984047639302771
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