Results 11 to 20 of about 4,323,847 (152)

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   +8 more sources

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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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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Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report [PDF]

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: 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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Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report [PDF]

Journal of Medical Case Reports, 2012
Introduction Pachydermoperiostosis or primary hypertrophic osteoathropathy is a rare genetic disease with autosomal transmission. This disorder, which affects both bones and skin, is characterized by the association of dermatologic changes (pachydermia ...
Akrout Rim, Bendjemaa Samar, Fourati Héla, Ezzeddine Mariem, Hachicha Imene, Baklouti Soufiene   +5 more
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Familial primary osteoarthropathy: A case report with unusual dental findings

Journal of Indian Academy of Oral Medicine and Radiology, 2015
Pachydermoperiostosis (PDP) is a rare osteo-arthro-dermopathic syndrome, the diagnosis of which can be made on the basis of the classic clinical and radiological presentations.
Vela D Desai, Sunil MV Kumar, Sahil Maghu   +2 more
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A Case Report of Primary Hypertrophic Osteoarthropathy

罕见病研究
Primary hypertrophic osteoarthropathy(PHO) is a rare disease also known as pachydermoperiostosis. We reported a painless case whose diagnosis was confirmed by genetic test. A 24-year-old male presented a series of symptoms that first began at 14.
ZHAO Zongxuan, SUN Liying, CHEN Jia, WANG Yanyuan, CHEN Dan, ZUO Qingyao, DENG Wei, TIAN Wen   +7 more
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Primary Hypertrophic Osteoarthropathy: A Case Series [PDF]

Journal of Marine Medical Society
Primary hypertrophic osteoarthropathy (PHOA) is a rare genetic disorder defined by digital clubbing, periostosis of long bones, and musculoskeletal pain.
Ramakant Singh, Kunal Kishore, J. Sankar, Avneet Kumar Gupta, Abhishek Kumar, Dev Prakash Sharma, Puran Padwal   +6 more
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Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case

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, GN Suma, Ravi Prakash, Umesh Chandra Rastogi, Sumeet Bhargava, Vaibhav Rastogi   +5 more
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