title: Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome.
abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction. A subset of patients also show ceroid deposition, which can result in pulmonary fibrosis or granulomatous colitis. Whether this colitis may be considered Crohn's disease is under debate. We report a case of a patient with HPS associated with inflammatory bowel disease which affected the distal small bowel but not the colon. Ileitis was severe, and recurred rapidly after surgery. Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative. Symptoms and ileal ulcerations which recurred after surgery were successfully treated with azathioprine and infliximab.
authors.affiliation: Service d'Hépato-Gastroentérologie, Hôpital Européen Georges Pompidou, Paris.
authors.forename: Antoine
authors.initials: A
authors.lastname: de Leusse
authors.forename: Evelyne
authors.initials: E
authors.lastname: Dupuy
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.forename: Claire
authors.initials: C
authors.lastname: Danel
authors.forename: Guy
authors.initials: G
authors.lastname: Meyer
authors.forename: Raymond
authors.initials: R
authors.lastname: Jian
authors.forename: Philippe
authors.initials: P
authors.lastname: Marteau
mesh_terms: D000328:Adult; D003424:Crohn Disease / Q000188:drug therapy / Q000209:etiology* / Q000601:surgery; D004252:DNA Mutational Analysis; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D007079:Ileitis / Q000188:drug therapy / Q000209:etiology* / Q000601:surgery; D012008:Recurrence