Hermansky-Pudlak syndrome is a rare disease that results in decreased pigmentation ( oculocutaneous albinism) that affects the skin, eyes and hair. Symptoms of this disease include bleeding problems, storage of abnormal fat-protein compound, eye related disorders and albinism (defect of production of melanin which translates into little or no coloration of the skin, hair and eyes). Although there is no cure for this condition, therapy with vitamin E is used to treat chronic hemorrhages associated with this disorder.
HOW IS HERMANSKY-PUDLAK SYNDROME DIAGNOSED?
There are 9 known types of this genetically transmitted disorder.