Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis [PDF]
Respiratory Medicine Case ReportsHermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia
Matthew Donnan +2 more
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Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype [PDF]
G3: Genes, Genomes, Genetics, 2017 Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
James C. Hart, Craig T. Miller
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Hermansky-Pudlak syndrome; a Case Report [PDF]
Journal of Ophthalmic & Vision Research, 2010 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.
Abbas Bagheri, Asieh Abdollahi
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Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1 [PDF]
Orphanet Journal of Rare DiseasesHermansky-Pudlak Syndrome (HPS) type 1 (HPS-1) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and pulmonary fibrosis (HPS-PF), the leading cause of mortality in these patients.
Lourdes Marinna Caro-Rivera +11 more
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Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease [PDF]
European Respiratory Review, 2021 Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky–Pudlak syndrome (HPS),
Tadafumi Yokoyama +1 more
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Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3 [PDF]
Orphanet Journal of Rare Diseases, 2022 Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico.
Gabriel Santos Malave +2 more
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A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9) [PDF]
BMC GenomicsBackground Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease.
Seyyed Mohammad Kahani +5 more
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Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky–Pudlak Syndrome [PDF]
Advances in Respiratory MedicineHermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defects in lysosome-related organelles. Given the high mortality rate associated with HPS pulmonary fibrosis (PF) and the significant risks tied to lung ...
Wilfredo De Jesús-Rojas +9 more
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After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report [PDF]
Molecular Genetics & Genomic MedicineBackground Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects.
Joseline Serrano‐González +4 more
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Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3 [PDF]
Frontiers in GeneticsBackgroundHermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with phenotypic and genetic heterogeneity, characterized by oculocutaneous albinism, bleeding diathesis, and other specific subtypes such as colitis.
Jingqun Mai +13 more
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