title: Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.
abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn's disease. We present two cases of HPS-associated Crohn's disease phenotype in which the patients were refractory to standard medical management. The pathophysiology of HPS is mediated by single-gene defects that alter endosome trafficking, and we hypothesize that this mechanism leads to the observed association with a CD phenotype.
authors.affiliation: Inflammatory Bowel Disease Center, University of Chicago Medicine, Chicago, IL.
authors.forename: M Anthony
authors.initials: MA
authors.lastname: Sofia
authors.affiliation: Inflammatory Bowel Disease Center, University of Chicago Medicine, Chicago, IL.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Sakuraba
authors.affiliation: Inflammatory Bowel Disease Center, University of Chicago Medicine, Chicago, IL.
authors.forename: David T
authors.initials: DT
authors.lastname: Rubin