Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report

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...

Hermansky-Pudlak Syndrome; a Case Report

PURPOSE To report a case of Hermansky-Pudlak syndrome. CASE REPORT A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosp...

hermansky-pudlak syndrome: a case report

purpose: to report a case of hermansky-pudlak syndrome (hps). case report: a 7-year-old boy presented with marked generalized hypopigmentation, eye deviation and nystagmus. in addition he had history of easy bruising. visual acuity was 20/200. he had markedly translucent green irides, hypermetropic astigmatism, horizontal nystagmus and marked exotropia. funduscopy revealed a hypopigmented retin...

Hermansky-Pudlak syndrome.

We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon. In spite of all the classical features of this genetic disorder he was labeled to have disseminated tuberculous infectio...

Hermansky-Pudlak Syndrome