%0 Journal Article
%T Hermansky-Pudlak Syndrome: A Case Report
%A Ilhami Berber
%A Mehmet Ali Erkurt
%A Irfan Kuku
%A Emin Kaya
%A Mustafa Koroglu
%A Ilknur Nizam
%A Mehmet Gul
%A Recep Bentli
%J Case Reports in Hematology
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/249195
%X 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. 1. Introduction Hermansky-Pudlak syndrome (HPS) is a hereditary multisystem disorder, characterized by oculocutaneous albinism and platelet storage deficiency, in which prolonged bleeding, pulmonary fibrosis, and granulomatous colitis may also occur. Although the first patients with this disorder were reported from Czechoslovakia, most of the subsequent patients have come from Puerto Rico [1]. There are nine types of human HPS reported to date, based on the genetic mutation from which the disorder stems [2]. Mutations observed in HPS are known to cause impairment of specialized secretory cells, including melanocytes, platelets, and lung alveolar type II epithelial cells. These patients demonstrate prolonged bleeding after surgical procedures and easy bruising [1]. The bleeding diathesis is variable; however, death from haemorrhaging has been reported [3]. Oculocutaneous albinism, the impairment of specialized secretory lysosomes in the melanocytes, is associated with HPS. The diagnosis is made by clinical findings of hypopigmentation of the skin and hair, eye characteristics, and the demonstration of absent dense bodies in the whole-mount electron microscopy of the platelets. The disease can cause dysfunction in the lungs, intestine, kidneys, or heart [1]. In this study, we report a case of HPS diagnosed as a result of bleeding diathesis. 2. Case Report A 23-year-old Turkish male with no significant disease history (with the exception of visual problems) presented with recurrent epistaxis after septoplasty operation. His past medical history indicated that he had bleeding episodes that were difficult to stop after circumcision and an appendectomy. He had no history of recurrent infections. His parents were unrelated, and he had one unaffected brother and sister. The physical
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