Results 11 to 20 of about 8,832 (185)

Primary hypertrophic osteoarthropathy [PDF]

Rheumatology Science and Practice, 2020
The article presents information about a rare hereditary disease – primary hypertrophic osteoarthropathy with autosomal dominant and autosomal recessive inheritance. Genetic heterogeneity is responsible for the clinical polymorphism of symptoms that appear in childhood and adolescence.
E. L. Trisvetova
doaj   +7 more sources

Clinical and genetic characteristics of primary hypertrophic osteoarthropathy

Neuromuscular Diseases, 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 or pachyderma.
E. L. Dadali, T. V. Markova, V. M. Kenis, T. S. Nagornova, S. S. Nikitin   +4 more
doaj   +6 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   +13 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.
Shinjo, Samuel Katsuyuki, Levy-Neto, Mauricio, Borba, Eduardo Ferreira   +2 more
doaj   +8 more sources

Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy. [PDF]

Orphanet J Rare Dis
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 ...
Cai X, Yang X, Zhang P, Dou Z, Chen Z, Zhu C, Xu W, Wang X, Hong X, Zhang Z.   +9 more
europepmc   +4 more sources

Hypertrophic pulmonary osteoarthropathy with primary lung cancer

Majalah Kedokteran Andalas, 2017
Hipertrophic Pulmonary Osteoarthropathy (HPO) merupakan sindrom paraneoplastik yang disebabkan oleh kelainan pada paru-paru. Angka kejadian HPO sangat rendah yaitu kurang dari 1%, dimana penyebab yang tersering (90%) adalah karsinoma bronkogenik. Gambaran klinis HPO timbul akibat kelainan sistemik pada sendi dan jaringan lunak berupa pembengkakan pada ...
Yulia Kurniawati, A. H. S. Kartamihardja
doaj   +5 more sources

Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review. [PDF]

BMC Pediatr
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.
Li J, Jia S, Guo J, Xie W, Ma Y, Gao X, Gao M.   +6 more
europepmc   +4 more sources

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

Cent Eur J Immunol, 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
Wójtowicz J, Kołodziejczyk B, Gazda A, Gietka P.   +3 more
europepmc   +3 more sources

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

Front Genet, 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.
Albawa'neh A, Al Mansoori MG, Diab S, Al Jasmi F, Akawi N.   +4 more
europepmc   +3 more sources

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy. [PDF]

Cold Spring Harb Mol Case Stud, 2023
Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WES).
Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX.   +4 more
europepmc   +4 more sources