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 +4 more
doaj +4 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 +6 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 +6 more
doaj +2 more sources
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 +3 more
doaj +2 more sources
Incomplete primary hypertrophic osteoarthropathy. [PDF]
BMJ Case Rep, 2020 A 63-year-old man presented with chronic multiple joint pain and swelling. The symptoms had started in adolescence, progressed for about 10–15 years, and then became constant. There was no associated morning stiffness. Symptoms suggesting any chest or abdominal disease were absent.
Prasad A +3 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 +4 more
europepmc +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 +7 more
doaj +3 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 +2 more
doaj +3 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 +2 more
doaj +4 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 +5 more
doaj +2 more sources