Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review
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DOI: 10.1186/s12887-025-05590-z
Abstract: 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. We describe the clinical and genetic… read more here.
Keywords: primary hypertrophic; caused hpgd; hypertrophic osteoarthropathy; literature review ... See more keywords
Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy
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DOI: 10.1186/s13023-025-03722-3
Abstract: 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 genetic subtypes. However, there… read more here.
Keywords: primary hypertrophic; genetic subtypes; three clinical; hypertrophic osteoarthropathy ... See more keywords
Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients
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DOI: 10.4103/ijdvl.ijdvl_414_17
Abstract: Here, we report two patients with novel mutations in the SLCO2A1 gene. Patient 1 was a 23‐year‐old male patient who attended the dermatology clinic with a 10‐year history of severe acne and hyperseborrhea. On physical… read more here.
Keywords: report two; primary hypertrophic; slco2a1 gene; dermatology ... See more keywords
Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations
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DOI: 10.7150/ijbs.71261
Abstract: Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disease mainly affecting the skeletal and skin. Two genes involved in prostaglandin degradation are known to be responsible for PHO: HPGD and SLCO2A1. HPGD gene mutation can… read more here.
Keywords: hpgd mutations; clinical biochemical; primary hypertrophic; phoar1 patients ... See more keywords