Pachydermoperiostosis with gynecomastia and osteoporosis: a rare case with a rare presentation

Ükinç, Kubilay; Ersöz, Hasan; Erem, Cihangir; Hacıhasanoğlu, Arif; Ersöz, Şafak; Buran, M.

doi:10.1111/j.1742-1241.2005.00748.x

Cited by 2 publications

(1 citation statement)

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“…also reported a PDP patient associated Menetrier’s disease in 2016 9 . Three independent reports showed hypertrophic gastric mucosa in PDP patients and gastric biopsy revealed gastric mucosa hyperplasia of the surface epithelium, cystic changes, stromal edema with inflammatory cells infiltration 10 – 12 . Other three PDP patients with hypertrophic gastritis were also respectively reported but they didn’t receive histological examination 13 – 15 .…”

Section: Introductionmentioning

confidence: 95%

Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis

Huang

Wang

Cao

et al. 2017

Sci Rep

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Pachydermoperiostosis (PDP) is a rare inherited multisystem disease characterized with digital clubbing, pachydermia and periostosis. Variants in either HPGD or SLCO2A1 that interrupt the prostaglandin E2 (PGE2) pathway have been shown to be involved in PDP. Here, in addition to six confirmed variants in HPGD or SLCO2A1, we identified four novel SLCO2A1 variants in eight PDP patients from seven Chinese Han families. In addition, gastric mucosa hyperplasia was observed in all affected individuals and interleukin-6 (IL-6), tumor necrosis factor-alpha (TNFα) and receptor activator of nuclear factor kappa ligand (RANKL) expression were elevated in hypertrophic gastric mucosa. Two of eight patients who had severe arthralgia were treated with celecoxib. After three months, their arthralgia was partly relieved and IL-6, TNFα and RANKL expression were decreased in accordance with their relieved hypertrophic gastric mucosa. Our study broadens the variation spectrum of SLCO2A1 and suggests that the gastric mucosa hyperplasia might be a common characteristic of PDP. Moreover, celecoxib would be a considerable choice for PDP patients. We also revealed that IL-6, TNFα and RANKL may play important roles in the molecular mechanisms of gastric mucosa hyperplasia in PDP for the first time.

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