Hermansky-Pudlak syndrome
Last reviewed 01/2018
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.