Send to:

Choose Destination
See comment in PubMed Commons below
Hautarzt. 1989 Mar;40(3):130-3.

[Hermansky-Pudlak syndrome].

[Article in German]

Author information

  • 1Universitäts-Hautklinik Hamburg.


Hermansky-Pudlak syndrome is a hereditary disease with an autosomal recessive mode of inheritance, characterized by the triad of tyrosinase-positive oculocutaneous albinism, a hemorrhagic diathesis resulting from storage pool-deficient platelets, and accumulation of ceroid/lipofuscin-like material in various cells and tissues and in the urine. The basic defect in this syndrome remains unknown. It is believed that the primary defect may involve membranes of the platelet-dense bodies and the melanosomes. Recently a defective calcium uptake system and low activities for membrane-associated thioredoxin reductase have been shown in Hermansky-Pudlak syndrome, and their possible role in the pathomechanism of this disorder is discussed.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk