Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.
ACG Case Rep J 2017 18;4:e14. Epub 2017 Jan 18.
Inflammatory Bowel Disease Center, University of Chicago Medicine, Chicago, IL.
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. Read More