HYPERTROPHIC OSTEOARTHROPATHY IN A PATIENT WITH HETEROZYGOUS MUTATION IN THE SLCO2A1 GENE: A CASE REPORT [PDF]
Central Asian Journal of Medical Hypotheses and Ethics, 2023 Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion carrier
Ilke Coskun Benlidayi +2 more
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Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations. [PDF]
Int J Biol Sci, 2022 Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disease mainly affecting the skeletal and skin. Two genes involved in prostaglandin degradation are known to be responsible for PHO: HPGD and SLCO2A1.
Lu Q +5 more
europepmc +2 more sources
Pachydermoperiostosis Mimicking Inflammatory Arthritis: Case Description and Narrative Review [PDF]
Rheumato, 2023 Pachydermoperiostosis (PDP), also called primary hypertrophic osteoarthropathy (HOA), is a rare genetic disease with typical thickening of the skin (pachydermia) and rheumatic manifestations, with clubbing of the fingers and toes and periostosis of the ...
AKM Kamruzzaman +7 more
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Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1. [PDF]
Dtsch Arztebl IntPauly M +2 more
europepmc +4 more sources
Primary Hypertrophic Osteoarthropathy
Journal of Biomedical Graphics and Computing, 2011 A rare case of 25 years male who had intermittent swelling over the ankles as well as knees, for the past 7 years is presented here. This case report not only enables diagnosing primary hypertrophic arthropathy, by systematically excluding other differentials but also brings out essential differences between primary and secondary forms of this entity.
Sushil Kachewar
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Primary hypertrophic osteoarthropathy and bilateral transient lateral patellar dislocation in an adolescent. [PDF]
BJR Case Rep, 2022 This case report is of the index case of bilateral transient patellar dislocation in a patient with primary hypertrophic osteoarthropathy. Primary hypertrophic osteoarthropathy is a rare complex disorder with variable presentation and thus frequently ...
Jeyabaladevan S +3 more
europepmc +2 more sources
Hypertrophic pulmonary osteoarthropathy with primary lung cancer
Majalah Kedokteran Andalas, 2017 Hipertrophic Pulmonary Osteoarthropathy (HPO) merupakan sindrom paraneoplastik yang disebabkan oleh kelainan pada paru-paru. Angka kejadian HPO sangat rendah yaitu kurang dari 1%, dimana penyebab yang tersering (90%) adalah karsinoma bronkogenik ...
Yulia Kurniawati, A.H.S. Kartamihardja
doaj +3 more sources
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case [PDF]
Indian Journal of Radiology and Imaging, 2009 Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy is a rare syndrome with diverse radiological and clinical features. Though the diagnosis can be made on the basis of the classic clinical and radiological features, it is often missed ...
Rajul Rastogi +5 more
doaj +2 more sources
Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy [PDF]
Journal of Bone and Mineral Research, 2020 Primary hypertrophic osteoarthropathy (PHO) is a rare disease inherited as a recessive or irregular dominant trait and characterized by digital clubbing, pachydermia, and periostosis.
Yang Xu +6 more
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Atypical primary hypertrophic osteoarthropathy diagnosed with a novel SLCO2A1 gene mutation [PDF]
Imaging, 2023 Primary hypertrophic osteoarthropathy (HOA) is a rare condition with no identifiable cause, accounting for 3%–5% of all HOA cases. It is challenging to identify incomplete primary HOA, which can be misdiagnosed as other hypertrophic periostitis diseases.
Phạm Hoài Thu +3 more
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