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
doaj +3 more sources
Hermansky‐Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies [PDF]
IUBMB Life, Volume 77, Issue 5, May 2025.ABSTRACT Hermansky‐Pudlak syndrome (HPS) is a rare inherited disorder caused by defects in lysosome‐related organelles (LROs) in various tissues, including platelets, melanocytes, and endothelial cells. Key features of HPS include oculocutaneous albinism, bleeding tendency, and, in some cases, pulmonary fibrosis, granulomatous colitis, and ...
Francesca Tondi +6 more
wiley +3 more sources
Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2 [PDF]
Pediatr Allergy ImmunolPediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Naomi Baba +11 more
wiley +2 more sources
Der Ophthalmologe, 2012 A 1-year-old female child suffering from nystagmus and abnormal head posture (AHP) was presented by the parents in our clinic. The family history revealed the presence of von Willebrand's disease in both parents. General examination showed a female child with light blond colored skin accompanied by black-haired parents.
Atili, A. +3 more
openaire +4 more sources
Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells [PDF]
Haematologica, 2019 Weibel-Palade bodies are endothelial secretory organelles that contain von Willebrand factor, P-selectin and CD63. Release of von Willebrand factor from Weibel-Palade bodies is crucial for platelet adhesion during primary hemostasis.
Ellie Karampini +8 more
doaj +2 more sources
Hermansky-Pudlak syndrome; a Case Report
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
doaj +1 more source
Recurrent perianal abscess in a patient with Hermansky-Pudlak syndrome–associated granulomatous colitis: a case report [PDF]
Annals of Coloproctology, 2021 Hermansky-Pudlak syndrome (HPS) is a rare genetic disease consisting of the triad of oculocutaneous albinism, bleeding diathesis, and pigmented reticuloendothelial cells.
Ahmet Omak +2 more
doaj +3 more sources
Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome [PDF]
Int J Mol SciHermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles ...
Rena A. Zinchenko +12 more
core +2 more sources
Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome [PDF]
International Journal of Nephrology, 2011 We report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS).
Roberto Gordillo +4 more
doaj +2 more sources
Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes [PDF]
Genes (Basel), 2023 Background: Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct heterogenic genetic disorders that are caused by mutations in four protein complexes: AP-3 ...
Osama Muthaffar +13 more
core +2 more sources