HERMANSKY-PUDLAK-SYNDROME - A CASE-REPORT AND DISCUSSION

Hermansky-Pudlak syndrome is a rare, inherited, autosomal recessive di sease, Diagnosis is based on a triad of signs: oculocutaneous albinism , a hemorrhagic tendency due to a platelet disorder, and an accumulati on of lipopigments in different organs, particularly the medullary mac rophages. We describe a child with the characteristic findings of this syndrome, which often goes unrecognized because of the discrete natur e of the cutaneous and hemorrhagic manifestations. This diagnosis is i mportant because of the risk not only of hemorrhage but also of granul omatous colitis and long-term pulmonary fibrosis.