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Hermansky-Pudlak's Syndrome

Characterized by the association of generalized tyrosinase positive albinism and platelet dysfunction (absence of platelet dense bodies) and accumulation of ceroid in tissue.
It is common in these patients to find a bleeding diathesis that in most cases occurs with epistaxis and prolonged bleeding time.
Choroid material can accumulate in the tissue producing: fibrotic restrictive lung disease, inflammatory bowel disease (granulomatous colitis), renal failure and cardiomyopathy during the third, fourth decade of life.
Behind this form there is a deficit in the accumulation of granules in platelets, which do not undergo aggregation when stimulated.
The severity of bleeding is extremely variable, ranging from minor bruises, epistaxis, hemoptysis, gums bleeding while brushing the teeth until endangering bleeding for the life of the patient.

Insights
  » Hermansky-Pudlak's Syndrome
  » Management of the patient suffers from Hermansky-Pudlak's syndrome



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