title: Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, successfully treated with infliximab.
abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterised by the triad of oculocutaneous albinism, platelet dysfunction and accumulation of ceroidlike pigment in tissues. Complications of the syndrome, such as fatal 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 (UC) and pathologic features suggestive of Crohn's disease. We report a patient with HPS which was complicated by granulomatous colitis with perineal and rectovaginal fistulas refractory to antibiotics and azathioprine but dramatically responded to repeated infusions of infliximab.
authors.affiliation: Istanbul University, Cerrahpasa Faculty of Medicine, Department of Gastroenterology. dryusuf@doruk.net.tr
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Erzin
authors.forename: Suleyman
authors.initials: S
authors.lastname: Cosgun
authors.forename: Ahmet
authors.initials: A
authors.lastname: Dobrucali
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tasyurekli
authors.forename: Sibel
authors.initials: S
authors.lastname: Erdamar
authors.forename: Murat
authors.initials: M
authors.lastname: Tuncer
mesh_terms: D000293:Adolescent; D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D003093:Colitis, Ulcerative / Q000188:drug therapy / Q000209:etiology; D003424:Crohn Disease / Q000188:drug therapy* / Q000209:etiology* / Q000473:pathology; D005260:Female; D005765:Gastrointestinal Agents / Q000627:therapeutic use*; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D000069285:Infliximab; D010502:Perineum / Q000002:abnormalities; D012006:Rectovaginal Fistula / Q000188:drug therapy / Q000209:etiology
chemical_list: D000911:Antibodies, Monoclonal; D005765:Gastrointestinal Agents; D000069285:Infliximab