Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.
نویسندگان
چکیده
Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.
منابع مشابه
The Eye in the Hermansky-Pudlak Syndrome: A Literature Review
Introduction: The Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by oculo cutaneous albinism, a bleeding diathesis and lysosomal accumulation of ceroid lipofuscin. Objectives: To do a comprehensive literature review of the clinicopathological findings in patients with the Hermasnky-Pudlak syndrome, its diagnosis, management, and treatment. Methods: A literature review...
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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 demonstrat...
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Hermansky–Pudlak syndrome (HPS) is a rare, heterogeneously inherited, autosomal recessive group of disorders presenting with a triad of oculocutaneous albinism, a haemorrhagic defect secondary to platelet dysfunction and accumulation of ceroid-like material in the reticuloendothelial system [1, 2]. Although pulmonary fibrosis has occurred in a number of patients with this syndrome and generally...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 69 12 شماره
صفحات -
تاریخ انتشار 1985