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Am J Gastroenterol. 1989 May;84(5):552-6.

Perirectal abscess in the Hermansky-Pudlak syndrome.

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  • 1Department of Medicine, New York University School of Medicine, New York.

Abstract

The Hermansky-Pudlak syndrome (HPS) is a triad of tyrosine-positive albinism, platelet dysfunction, and the deposition of an abnormal ceroid-like pigment in the tissues. Complications of the syndrome, such as pulmonary fibrosis, renal failure, and cardiomyopathy, have been described. Granulomatous colitis has been documented in several families with the HPS. The bowel disease of the HPS is a unique type of inflammatory bowel disease with clinical features suggestive of idiopathic ulcerative colitis and pathologic features suggestive of Crohn's disease. Analogous to the presentation of Crohn's disease with perianal and perirectal involvement, we describe the occurrence of perianal disease and a perirectal abscess in a 29-yr-old woman with HPS and mild granulomatous colitis.

PMID:
2497640
[PubMed - indexed for MEDLINE]
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