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
BMC Gastroenterology, 2019 Background Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency.
Jun Ishihara +10 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
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
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
New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient
Reports, 2019 The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in HPS1-10 and their related genes, comprising the biogenesis of lysosome-related organelles complex 1 ...
Shinya Kato +4 more
doaj +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
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
doaj +2 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.
Baba N +12 more
europepmc +2 more sources
Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome [PDF]
JAAD Case Reports, 2022 Ryan Fan, BA +6 more
doaj +2 more sources