Important
It is possible that the major title of the report Hermansky Pudlak syndrome is not the name you expected. Please inspect the words specifying to locate the alternating name(s) and also problem class(s) covered by this report.
Basic synonyms
- HPS
- delta storage space pool illness
- albinism with hemorrhagic diathesis and also pigmented reticuloendothelial cells
Disorder Communities
- None
General Discussion
Hermansky-Pudlak syndrome is a rare, hereditary condition that includes 3 attributes: absence of skin pigmentation (albinism), blood platelet disorder with long term bleeding, as well as visual problems. Some clients have lung fibrosis, colitis, or an abnormal storage space of a fatty-like material (ceroid lipofuscin) in numerous cells of the body.