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

Acta Gastroenterol Belg. 2006 Apr-Jun;69(2):213-6.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antibodies, Monoclonal / therapeutic use*
  • Colitis, Ulcerative / drug therapy
  • Colitis, Ulcerative / etiology
  • Crohn Disease / drug therapy*
  • Crohn Disease / etiology*
  • Crohn Disease / pathology
  • Female
  • Gastrointestinal Agents / therapeutic use*
  • Hermanski-Pudlak Syndrome / complications*
  • Hermanski-Pudlak Syndrome / drug therapy*
  • Hermanski-Pudlak Syndrome / pathology
  • Humans
  • Infliximab
  • Perineum / abnormalities
  • Rectovaginal Fistula / drug therapy
  • Rectovaginal Fistula / etiology

Substances

  • Antibodies, Monoclonal
  • Gastrointestinal Agents
  • Infliximab