Results 1 to 10 of about 2,284 (209)

Primary hypertrophic osteoarthropathy [PDF]

Научно-практическая ревматология, 2020
The article presents information about a rare hereditary disease – primary hypertrophic osteoarthropathy with autosomal dominant and autosomal recessive inheritance.
E. L. Trisvetova
doaj   +6 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, Maisha Farzana, Md Mainuddin Sohel, Emrul Kaiser, Nobendu Chowdhury, Md Hafizur Rahman, Syed Atiqul Haq, Johannes J. Rasker   +7 more
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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, Kubra Tuncer, Tunay Sarpel   +2 more
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Primary hypertrophic osteoarthropathy: genetics, clinical features and management

Frontiers in Endocrinology, 2023
Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 ...
Qi Lu, Yang Xu, Zeng Zhang, Shanshan Li, Zhenlin Zhang   +4 more
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Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy [PDF]

Orphanet Journal of Rare Diseases
Background Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder classified into clinical subtypes and genetic subtypes. Previous clinical studies have primarily focused on case reports and family analyses, largely characterizing the ...
Xilei Cai, Xiujuan Yang, Pengyue Zhang, Ziyue Dou, Zilian Chen, Chongzhi Zhu, Weiwei Xu, Xinchen Wang, Xiaodan Hong, Zhenhua Zhang   +9 more
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Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review [PDF]

BMC Pediatrics
Background Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder primarily characterized by digital clubbing, pachydermia, and periostitis. The rarity of this disease often leads to misdiagnosis or delayed diagnosis.
Jun Li, Shilei Jia, Jianqun Guo, Wenhui Xie, Yijiao Ma, Xiaojie Gao, Meihao Gao   +6 more
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Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report

Frontiers in Genetics, 2022
We reported a 22-year-old Emirati male with autosomal recessive primary hypertrophic osteoarthropathy caused by a possibly pathogenic homozygous non-synonymous variant in the SLCO2A1 gene (NM_005630.3: c.289C>T, p.
Areej Albawa'neh, Mariam Ghareeb Al Mansoori, Sehriban Diab, Fatma Al Jasmi, Fatma Al Jasmi, Nadia Akawi, Nadia Akawi   +6 more
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Primary hypertrophic osteoarthropathy – a rare cause of pain and arthritis in children. Description of 5 cases

Central European Journal of Immunology, 2022
Primary hypertrophic osteoarthropathy (PHOA) is a very rare disease. The typical triad of symptoms, i.e. digital clubbing, periosteal bone formation with bone and joint deformities and skin hypertrophy, may be accompanied by other specific conditions. In
Joanna Wójtowicz, Beata Kołodziejczyk, Agnieszka Gazda, Piotr Gietka   +3 more
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Complete form of pachydermoperiostosis, [PDF]

Anais Brasileiros de Dermatologia, 2020
Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. Its pathogenesis is uncertain and the diagnosis is based on clinical and radiological
Mônica Larissa Padilha Honório, Guilherme Holanda Bezerra, Vivianne Lira da Câmara Costa   +2 more
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Osteological and Biomolecular Evidence of a 7000-Year Old Case of Hypertrophic Pulmonary Osteopathy Secondary to Tuberculosis from Neolithic Hungary [PDF]

, 2013
Seventy-one individuals from the late Neolithic population of the 7000-year-old site of Hódmezővásárhely-Gorzsa were examined for their skeletal palaeopathology.
Besra, Gurdyal S., Bull, Ian D, Donoghue, Helen D., Lee, Oona Y-C., Masson, Muriel, Minnikin, David E., Molnár, Erika, Pálfi, György, Wu, Houdini H. T.   +8 more
core   +7 more sources