Results 91 to 100 of about 8,832 (185)
Primary Hypertrophic Osteoarthropathy: A Case Report
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
Primary hypertrophic osteoarthropathy, autosomal recessive type 1 (PHOAR1, MIM259100) is caused by mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD, MIM601688) on chromosome 4q34.
Yue Li+8 more
doaj
Pachydermoperiostosis as the primary form of hypertrophic osteoarthropathy is a rare hereditary disorder with a number of characteristic findings, e.g. periosteal hypertrophy, digital clubbing and pachydermia.
S. Warwas+3 more
doaj +1 more source
Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist
Introduction Acro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with various conditions and its presence should prompt the clinician to search for the underlying etiology.
Elizaveta Limenis+3 more
doaj +1 more source
Gastric Juvenile Polyposis with High-Grade Dysplasia in Pachydermoperiostosis
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+5 more
doaj +1 more source
Pachydermoperiostosis (Primary Hypertrophic Osteoarthropathy): Case Report
We report a case involving a young male with the complete form of primary hypertrophic osteoarthropathy. He presented with the typical features of the condition: thickening and furrowing of the skin of the forehead and scalp, and digital clubbing of the hands and feet. Plain radiographs of the long bones of the extremities depicted bilateral irregular,
Bae Young Lee+5 more
openaire +2 more sources
Hypertrophic osteoarthropathy (HOA) is characterized by clubbed fingers and periosteal new bone formation. Etiologically, it can be divided into primary and secondary HOA, but its pathogenesis is uncertain.
Wen-Chi Yang+6 more
doaj +1 more source
Pachydermoperiostosis is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing)
S. El Aoud+4 more
doaj +1 more source
Pachydermoperiostosis: a case report
Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually ...
Valentina A. Fursenko+3 more
doaj +1 more source
Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis
Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism.
Lijuan Yuan+8 more
doaj +1 more source