Hermansky-Pudlak Syndrome

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

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...

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...

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 rare cause of interstitial lung disease: Hermansky-Pudlak syndrome.

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...

Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.

Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albin...