Hermansky–Pudlak Syndrome

  • AR, HPS gene mutation (lysosomal transport protein) or AP3B1 (formation of vesicles and protein trafficking)
  • Oculocutaneous albinism, hemorrhagic diathesis (absent dense bodies in platelets) with epistaxis, ecchymosis, menorrhagia, pulmonary fibrosis, granulomatous colitis, renal failure, cardiomyopathy