Diagnostic delay in Hermansky-Pudlak syndrome: report of a case

Hermansky-Pudlak syndrome is a heterogeneous group of rare, autosomally recessively inherited disorders that are expressed with oculocutaneous albinism, hemorrhagic diathesis and systemic manifestations due to the accumulation of lysosomal ceroid material. Its definitive diagnosis is based on clinical characteristics and decrease in dense platelet granules observed by transmission electron microscopy. Currently there is no definitive treatment and it is based on multidisciplinary management of its complications. We present the clinical case of a patient with confirmed diagnosis of Hermansky-Pudlak syndrome, an entity little documented in the literature.