Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome

D. Hazzan, S. Seward, H. Stock, S. Zisman, K. Gabriel, N. Harpaz, J. J. Bauer

Research output: Contribution to journalReview articlepeer-review

36 Scopus citations


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessively inherited disorder consisting of the triad of oculocutaneous tyrosinase-positive albinism, prolonged bleeding time secondary to platelet storage pool defect and ceroid depositions within the reticuloendothelial system. Some patients also reportedly have gastrointestinal (GI) complications related to chronic granulomatous colitis, enterocolitis and extensive granulomatous perianal disease, the later previously unreported in the literature. These observations suggest that the GI complications of HPS are due to the development of classical Crohn's disease. The implications for disease pathogenesis and surgical management are discussed.

Original languageEnglish
Pages (from-to)539-543
Number of pages5
JournalColorectal Disease
Issue number7
StatePublished - Sep 2006


  • Enteritis
  • Granulomatous colitis
  • Hermansky-Pudlak syndrome
  • Surgery


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