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Hamostaseologie, 2014 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment. Interstitial lung disease may also accompany with the disease. Cases are mainly found among individuals with Puerto Rican ancestry.
Vicente Vicente +2 more
exaly +4 more sources
Hermansky-Pudlak Syndrome [PDF]
Clinics in Chest Medicine, 2016 Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4.
Souheil El-Chemaly, Lisa R. Young
exaly +3 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
Hermansky-Pudlak Syndrome: A Case Report [PDF]
Case Reports in Hematology, 2014 Objective.The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis.Clinical Presentation and Intervention.A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis.
İlhami Berber +7 more
core +6 more sources
Genetic Variants Associated With Hermansky-Pudlak Syndrome [PDF]
Platelets, 2020 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Kevin J O'Brien +2 more
exaly +3 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
Hermansky–Pudlak Syndrome [PDF]
Seminars in Respiratory and Critical Care Medicine, 2020 AbstractHermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease
Wilfredo, De Jesus Rojas, Lisa R, Young
+6 more sources
Síndrome de Hermansky - Pudlak
Brazilian Journal of Health Review, 2022 Introdução: a síndrome de hermansky – pudlak é uma doença genética caracterizada por albinismo oculocutâneo, disfunção plaquetária, e em alguns casos também há colite, insuficiência renal e fibrose pulmonar. Apresentação do caso: paciente, 4 anos, buscou atendimento para investigação de episódios frequentes de gengivorragia, epistaxe e hematomas nos ...
Sá, Jônatas Ferreira de +23 more
openaire +2 more sources
Medicine, 1985 Three Puerto Rican siblings with the Hermansky-Pudlak syndrome are described, and the literature on this syndrome is reviewed with regard to clinical factors, pathology, pathophysiology, and management of the disorder. The three patients all manifested oculocutaneous albinism and platelet storage pool disease with a moderate bleeding tendency.
RONALD A. DEPINHO, KAREN L. KAPLAN
openaire +1 more source