====== Hermansky-Pudlack Syndrome ======

====Main Features====
  * Lethal subtype of Oculocutaneous albinism
  * Tyrosinase-positive oculocutaneous albinism
    * Skin can be from white to olive
    * Hair color can be from white to brown
  * Bleeding diathesis from platelet storage pool deficiency
  * Pulmonary Fibrosis
  * Granulomatous colitis
====Eye Findings====
  * Iris pigment abnormalities with iris transillumination
  * Reduced retinal pigment
  * Foveal hypoplasia
    * VA usually between 20/50 to 20/400
    * Nystagmus
    * Abnormal increase in crossing of optic nerve fibers at the optic chiasm
====Diagnosis====
  * Clinical findings above
  * Platelet electron microscopy shows absent dense bodies
    * Most often used to confirm diagnosis
  * Increased bleeding time
  * Impaired platelet aggregation
  * Urinary ceroid lipofuscin deposits is characteristic but virtually never used for diagnosis
  * Molecular diagnosis available,
    * Testing for HPS 1-8 available clinically
    * HPS 9 (BLOC1S6, PLDN) is available on a research basis only
====Management====
  * Correct Refractive Error
  * Protect skin from the sun
  * Protracted bleeding with surgery- appropriate treatment needed
    * gelfoam, DDAVP, platelet transfusions
  * Supplemental Oxygen
  * Lung Transplant
  * Anti-inflammatory or immunosuppressive agents for colitis
====Reference====
[[http://www.ncbi.nlm.nih.gov/books/NBK1287/|OMIM Bookshelf]]

{{tag>syndrome}}