Hermansky-Pudlack Syndrome

• 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

• 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

• 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

• 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

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