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...

0

Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits. Pulmonary fibrosis may also accompany with the disease. A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness whic...

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...

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...

Validation of a method of blood pressure measurement for a study of hypertension in a black African population. Cahiers d'études recherches francophones/santé vasculaire chez l'adulte en milieu rural à Thiadiaye. The prevalence of hyperten-sion and its relationship with obesity: results from a national blood pressure survey in Eritrea. Faciès de l'hypertension artérielle en milieu professionnel...

This article discusses the role of electron microscopy in diagnosis and study morphological changes that cause platelet structural abnormalities a variety congenital diseases. Morphological can be divided into cytoskeleton, alpha dense granules, membrane abnormalities. Our paper describes ultrastructural defects Wiskott–Aldrich syndrome, MYH9-associated syndromes, gray Hermansky–Pudlak Paris–Tr...

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...