Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case [PDF]
Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy is a rare syndrome with diverse radiological and clinical features. Though the diagnosis can be made on the basis of the classic clinical and radiological features, it is often missed ...
Rajul Rastogi+5 more
doaj +2 more sources
Complete pachydermoperiostosis (Touraine–Solente–Gole Syndrome) in a young Yemeni man
Pachydermoperiostosis (PDP) is a rare genodermatosis, caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Member 2A1 (SLCO2A1) genes, affecting the skin and bones.
Mohammad Ali Alshami+2 more
openalex +2 more sources
Pachydermoperiostosis: a case report [PDF]
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 +3 more sources
Alteration of Matrix Macromolecule Synthesis by Fibroblasts from a Patient with Pachydermoperiostosis [PDF]
Pachydermoperiostosis (primary hypertrophic osteoarthropathy) is a very rare genetic disease characterized by pachydermia, periostosis, arthralgia, and finger clubbing.
Combemale, Patrick+6 more
core +2 more sources
Reverse frontal lifting: alternative for the treatment of pachydermoperiostosis [PDF]
Introduction: Patient diagnosed with pachydermoperiostosis, presenting a strong cutaneous manifestation, making it impossible to correct the defect by the usual facial lifting techniques.
Ronaldo Pontes+4 more
doaj +3 more sources
Complete Primary Pachydermoperiostosis: A Rare Neglected Clinicoradiological Case
Complete Primary Pachydermoperiostosis is a rare syndrome characterized by skin and skeletal manifestations. Diagnosis is often challenging due to variable presentations and a lack of confirmatory laboratory and radiological tests.
Parul Issar, Ankur Das, Swati Paliwal
doaj +2 more sources
A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly. [PDF]
Nakano Y+5 more
europepmc +2 more sources
Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis. [PDF]
Pasumarthi D+5 more
europepmc +2 more sources
Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis [PDF]
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 +3 more sources