Hermansky-pudlak syndrome: a case report.
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.
Department of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, Turkey.
Ilhami
I
Berber
Department of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, Turkey.
Mehmet Ali
MA
Erkurt
Department of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, Turkey.
Irfan
I
Kuku
Department of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, Turkey.
Emin
E
Kaya
Department of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, Turkey.
Mustafa
M
Koroglu
Department of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, Turkey.
Ilknur
0000-0002-7787-2232
I
Nizam
Department of Histology and Embryology, Faculty of Medicine, Inonu University, 44280 Malatya, Turkey.
Mehmet
M
Gul
Department of Internal Medicine, Faculty of Medicine, Inonu University, 44280 Malatya, Turkey.
Recep
R
Bentli