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Hermansky-Pudlak syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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This is a rare autosomal recessive disorder characterised by:

  • albinism
  • platelets defects and a bleeding diathesis
  • pulmonary fibrosis

There is a defect in subcellular membranes, similar to that seen in the Chediak-Higashi syndrome.

Death occurs in the third to sixth decades usually from pulmonary fibrosis.

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