Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds.

Case Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Hermansky-pudlak syndrome: report of a case and review of the literature.

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.

Abstract # 197: Multiple Gestation in a Patient with Hermansky-Pudlak Syndrome

197 Multiple Gestation in a Patient with Hermansky-Pudlak Syndrome Abstract Type: Case Report/Case Series Lisa A. Rhodes, M.D.; John J. Kowalczyk, B.Sc.; Bridget M. Marroquin, M.D. Strong Memorial Hospital, University of RochesterType: Case Report/Case Series Lisa A. Rhodes, M.D.; John J. Kowalczyk, B.Sc.; Bridget M. Marroquin, M.D. Strong Memorial Hospital, University of Rochester Hermansky-Pu...

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 demonstrat...