Hermansky-Pudlak syndrome: report of a case with histological, immunohistochemical and ultrastructural findings |
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| Authors: | Sameera Husain Elizabeth Marsh M. Carmen Saenz-Santamaria N. Scott McNutt |
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| Affiliation: | Departments of Pathology and Dermatology, New York Hospital-Cornell University Medical Centre, New York, USA;Department of Dermatology, Hospital Miguel Servet, Zaragoza, Spain |
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| Abstract: | We report a 38-year-old female of Puerto Rican descent with Hermansky-Pudlak syndrome and decreased levels of von Wille-brand factor. Histologic and ultrastuctural findings of non-sun-exposed skin showed melanocytes with short dendritic processes and decreased numbers of melanosomes. Ultrastructutal examination of platelets revealed greatly reduced numbers of delta granules. Recognition of this syndrome is important because skin neoplasms, ceroid deposition and hemorrhagic manifestations can be causes of morbidity and of potential death in patients affected with this syndrome. |
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