Results 11 to 20 of about 2,266 (189)
Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing [PDF]
Pediatric Rheumatology Online Journal, 2023 Background Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute ...
Rafaela Nicolau +7 more
doaj +2 more sources
Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene [PDF]
Orphanet Journal of Rare DiseasesBackground and aims Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chinese patients.
Qing Shang +8 more
doaj +2 more sources
Primary Hypertrophic Osteoarthropathy: A Case Report
Case Reports in Clinical Practice, 2018 The primary hypertrophic osteoarthropathy (PHOA or pachydermoperiostosis) is a rare (5% of total HOA) hereditary disease. One study described that the prevalence of PHOA is 0.16%.
Shima Asadi-Komeleh +4 more
doaj +1 more source
Incomplete primary hypertrophic osteoarthropathy [PDF]
BMJ Case Reports, 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.
Avijeet Prasad +3 more
openaire +2 more sources
An Aggressive Case of Thymic Lymphoepithelial Carcinoma Complicated by Cytokine Release Syndrome: A Case Report. [PDF]
Case Rep Oncol MedThymic lymphoepithelial carcinomas (TLECs) are a rare primary thymic cancer best described by lymphoplasmacytic infiltration of the thymic stroma. Though only accounting for 1.3%–6% of thymic carcinomas, the distribution of TLECs is bimodal, peaking around ages 14 and 48 and affecting males to females in a 2:1 ratio.
Filipiak LG, Dhliwayo NL, Paydary K.
europepmc +2 more sources
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 +1 more source
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 +1 more source
Primary hypertrophic osteoarthropathy
Journal of Biomedical Graphics and Computing, 2011 A rare case of 25 years male who had intermittent swelling over the ankles as well as knees, for the past 7 years is presented here. This case report not only enables diagnosing primary hypertrophic arthropathy, by systematically excluding other differentials but also brings out essential differences between primary and secondary forms of this entity.
Francieli de Sousa, Rabelo +6 more
+7 more sources
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, GS +8 more
core +7 more sources
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 +2 more
doaj +1 more source