Hermansky-Pudlak syndrome 2

Patients have oculocutaneous albinism, a bleeding diathesis, a platelet storage pool deficiency, other organ involvement, persistent neutropenia and an increased frequency of infections in childhood. Nearly all children with albinism of HPS have nystagmus at birth, wandering eye movements and lack of visual attention. Nystagmus is most noticeable when an individual is tired, angry or anxious. Iris colour may remain blue or change to a green/hazel or brown/tan colour. The hair colour ranges from white to brown, and can darken with age. The bleeding diathesis of HPS include variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding during menstruation or after tooth extraction, or other surgeries. Pulmonary fibrosis, granulomatous colitis, cardiomyopathy, and renal failure are due to the lysosomal accumulation of ceroid lipofuscin.

Diagnostic laboratories



Therapeutic options

  • Treatment involves minimizing the complications of bleeding; monitoring organ function, which ceroid deposits can impair; compensating for visual impairment; and evaluating skin that, because of albinism, can easily develop skin cancer.
  • Hermansky-Pudlak syndrome, eMedicine