Results 1 to 10 of about 2,247 (171)

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

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
doaj   +3 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
doaj   +3 more sources

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
doaj   +4 more sources

Palindromic rheumatism associated with primary hypertrophic osteoarthropathy [PDF]

Clinics, 2006
INTRODUCTION Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by the triad of finger clubbing, periosteal new bone formation, skin and soft tissue changes, giving an acromegaloid look. It is present in 2 distinct syndromes: primary and secondary.
Samuel Katsuyuki Shinjo, Mauricio Levy-Neto, Eduardo Ferreira Borba   +2 more
doaj   +4 more sources

Primary hypertrophic osteoarthropathy: genetics, clinical features and management [PDF]

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
doaj   +2 more sources

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
doaj   +2 more sources

Primary Hypertrophic Osteoarthropathy: A Case Series [PDF]

Journal of Marine Medical Society
Abstract Primary hypertrophic osteoarthropathy (PHOA) is a rare genetic disorder defined by digital clubbing, periostosis of long bones, and musculoskeletal pain. Differentiating it from secondary hypertrophic osteoarthropathy, which is associated with pulmonary or cardiac disease, is essential to avoid misdiagnosis and inappropriate ...
Ramakant Singh, Kunal Kishore, J. Sankar, Avneet Kumar Gupta, Abhishek Kumar, Dev Prakash Sharma, Puran Padwal   +6 more
core   +4 more sources

Gastric Juvenile Polyposis with High-Grade Dysplasia in Pachydermoperiostosis [PDF]

Case Reports in Gastroenterology, 2011
Pachydermoperiostosis (PDP) is the primary form of hypertrophic osteoarthropathy. It is a very rare disease consisting of pachydermia, digital clubbing and radiologic periostosis.
L. de Mestier, S. Moreau, C. Neuzillet, P. Ruszniewski, Y. Panis, P. Hammel   +5 more
doaj   +4 more sources

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
doaj   +2 more sources