title: Perirectal abscess in the Hermansky-Pudlak syndrome.
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.
authors.affiliation: Department of Medicine, New York University School of Medicine, New York.
authors.forename: A
authors.initials: A
authors.lastname: Sherman
authors.forename: L
authors.initials: L
authors.lastname: Genuth
authors.forename: C G
authors.initials: CG
authors.lastname: Hazzi
authors.forename: E J
authors.initials: EJ
authors.lastname: Balthazar
authors.forename: R A
authors.initials: RA
authors.lastname: Schinella
mesh_terms: D000038:Abscess / Q000000981:diagnostic imaging / Q000473:pathology; D000328:Adult; D000417:Albinism; D001791:Blood Platelet Disorders; D004156:Catechol Oxidase / Q000378:metabolism*; D005260:Female; D006801:Humans; D014442:Monophenol Monooxygenase / Q000378:metabolism*; D012002:Rectal Diseases / Q000000981:diagnostic imaging / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed
chemical_list: D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase