Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, successfully treated with infliximab

Hermansky-Pudlak syndrome (HPS) is a rare autosomal reces- sive 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 fibro- sis, 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 sugges- tive 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. (Acta gastroenterol. belg., 2006, 69, 213-216).