title: A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome.
abstract: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease characterized with oculocutaneous albinism and platelet aggregation disorder. The clinical picture is highly variable and patients may present with different complaints., Ecchymoses usually develop in childhood; epistaxis, postoperative hemorrhage and gingival bleeding may be observed. Here we present 3 patients who were diagnosed with HPS in our clinic. In conclusion, HPS should be considered in all patients with ocular findings and albinism even though bleeding disorder is not described. Bleeding findings may be mild or unrecognized. Absence of secondary wave in platalet aggregation tests supports the diagnosis.
authors.affiliation: Division of Pediatric Hematology-Oncology, İstanbul University Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.
authors.forename: Nihal
authors.initials: N
authors.lastname: Özdemir
authors.affiliation: Division of Pediatric Hematology-Oncology, İstanbul University Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.
authors.forename: Emre
authors.initials: E
authors.lastname: Çelik
authors.affiliation: Division of Adulthood Hematology, Hemostasis Laboratory, İstanbul University Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Başlar
authors.affiliation: Division of Pediatric Hematology-Oncology, İstanbul University Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.
authors.forename: Tiraje
authors.initials: T
authors.lastname: Celkan
keywords: Hermnasky-Pudlack syndrome; bleeding disorder; thrombocyte dysfunction