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 fo...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2014/249195 |
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| author | Ilhami Berber Mehmet Ali Erkurt Irfan Kuku Emin Kaya Mustafa Koroglu Ilknur Nizam Mehmet Gul Recep Bentli |
| author_facet | Ilhami Berber Mehmet Ali Erkurt Irfan Kuku Emin Kaya Mustafa Koroglu Ilknur Nizam Mehmet Gul Recep Bentli |
| author_sort | Ilhami Berber |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5427c78ab6b246b5b761366248f14471 |
| institution | DOAJ |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-5427c78ab6b246b5b761366248f144712025-08-20T03:19:24ZengWileyCase Reports in Hematology2090-65602090-65792014-01-01201410.1155/2014/249195249195Hermansky-Pudlak Syndrome: A Case ReportIlhami Berber0Mehmet Ali Erkurt1Irfan Kuku2Emin Kaya3Mustafa Koroglu4Ilknur Nizam5Mehmet Gul6Recep Bentli7Department of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Haematology, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Histology and Embryology, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyDepartment of Internal Medicine, Faculty of Medicine, Inonu University, 44280 Malatya, TurkeyObjective. 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.http://dx.doi.org/10.1155/2014/249195 |
| spellingShingle | Ilhami Berber Mehmet Ali Erkurt Irfan Kuku Emin Kaya Mustafa Koroglu Ilknur Nizam Mehmet Gul Recep Bentli Hermansky-Pudlak Syndrome: A Case Report Case Reports in Hematology |
| title | Hermansky-Pudlak Syndrome: A Case Report |
| title_full | Hermansky-Pudlak Syndrome: A Case Report |
| title_fullStr | Hermansky-Pudlak Syndrome: A Case Report |
| title_full_unstemmed | Hermansky-Pudlak Syndrome: A Case Report |
| title_short | Hermansky-Pudlak Syndrome: A Case Report |
| title_sort | hermansky pudlak syndrome a case report |
| url | http://dx.doi.org/10.1155/2014/249195 |
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