Hermansky-Pudlak syndrome: a case report and discussion

Hermansky-Pudlak syndrome is a rare, inherited, autosomal recessive disease. Diagnosis is based on a triad of signs: oculocutaneous albinism, a hemorrhagic tendency due to a platelet disorder, and an accumulation of lipopigments in different organs, particularly the medullary macrophages. We describe a child with the characteristic findings of this syndrome, which often goes unrecognized because of the discrete nature of the cutaneous and hemorrhagic manifestations. This diagnosis is important because of the risk not only of hemorrhage but also of granulomatous colitis and long-term pulmonary fibrosis.