Results 11 to 20 of about 10,313 (226)

Primary hypertrophic osteoarthropathy – a rare cause of pain and arthritis in children. Description of 5 cases [PDF]

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
doaj   +5 more sources

Primary Hypertrophic Osteoarthropathy: A case series [PDF]

Journal of Marine Medical Society
Skeletal dysplasia encompasses a spectrum of over 400 rare inheritable skeletal abnormalities typically manifested early in childhood. Hypertrophic Osteoarthropathy is a clinical syndrome marked by abnormal skin and osseous tissue proliferation at the ...
BANSAL, PURNA, BENNY, DEEPAK, Dr, BISARALLI, RAHUL, DR, MAMADAPUR, MAHABALESHWAR, DR, Pragya, Varuni   +4 more
core   +7 more sources

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   +7 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   +3 more sources

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
doaj   +3 more sources

Clinical and genetic characteristics of primary hypertrophic osteoarthropathy

Нервно-мышечные болезни, 2023
Background. Primary hypertrophic osteoarthropathy is a rare genetically heterogeneous disease with three clinical variants. The classic one is a combination of hyperostosis, arthropathy and pachyderma and two variants with damage to only bone structures ...
E. L. Dadali, T. V. Markova, V. M. Kenis, T. S. Nagornova, S. S. Nikitin   +4 more
doaj   +4 more sources

A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression [PDF]

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
Primary Hypertrophic Osteoarthropathy (PHOAR1) is characterized by autosomal recessive loss of function variants in 15‐hydroxyprostaglandin dehydrogenase (HPGD) leading to digital clubbing, periostosis, pachydermia, and severe hyperhidrosis.
Kenton J. Zehr, Morgan Buckley, Joshua W. Owens, Tomas Vanagunas, Patricia Vega Fernandez, Robert J. Hopkin, Amelle Shillington   +6 more
semanticscholar   +3 more sources

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for <i>SLCO2A1</i> variants. [PDF]

JBMR Plus
Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disease caused by pathogenic variants (PVs) in HPGD and SLCO2A1 genes whose phenotypes are, respectively, designated as PHOAR1 and PHOAR2.
Arcanjo AM, de Souza AF, de Souza Quedas EP, de Menezes Correia-Deur JE, Ferreira DL, de Almeida Toledo SP, Lourenço DM.   +6 more
europepmc   +4 more sources

Primary Hypertrophic Osteoarthropathy With Myelofibrosis. [PDF]

Cureus, 2022
Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive inherited multi-system disorder characterized by a triad of pachydermia, periostosis, and clubbing. PHO was revealed to be caused by the HPGD gene producing 15-prostaglandin dehydrogenase and the SLCO2A1 gene expressing one kind of prostaglandin transporter.
Yousaf M, Khan R, Akram Z, Chaudhry QU, Iftikhar R.   +4 more
europepmc   +4 more sources

Pachydermoperiostosis (Touraine-Solente-Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy

Journal of the Dow University of Health Sciences
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy (PHO), also known as the Touraine–Solente–Gole syndrome, is an autosomal dominant genetic disorder that is rare and is identified by finger clubbing, skin thickening, and periosteal ...
Fatima Khurshid, Kinza Shahid Randhawa, Fatima Khurshid, Memoona Khalid   +3 more
doaj   +12 more sources