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Role of Prostaglandin E-Major Urinary Metabolite Levels in Identifying the Phenotype of Pachydermoperiostosis

      Pachydermoperiostosis (PDP) is an autosomal recessive hereditary disease that has three diagnostic features: digital clubbing, periostosis, and pachydermia, including cutis verticis gyrata (CVG) (
      • Castori M.
      • Sinibaldi L.
      • Mingarelli R.
      • Lachman R.S.
      • Rimoin D.L.
      • Dallapiccola B.
      Pachydermoperiostosis: an update.
      ). CVG is a condition in which folds of the hypertrophic scalp skin create a cerebriform appearance. The phenotypic spectrum of PDP has been categorized into three distinct forms. First, the complete form involves all the three major symptoms, including CVG. Second, the incomplete form has all the three symptoms but solely lacks CVG. Third, the fruste form shows predominant pachydermia and minimal periostosis (
      • Castori M.
      • Sinibaldi L.
      • Mingarelli R.
      • Lachman R.S.
      • Rimoin D.L.
      • Dallapiccola B.
      Pachydermoperiostosis: an update.
      ).

      Abbreviations:

      Cre (creatinine), CVG (cutis verticis gyrata), PDP (pachydermoperiostosis), PGE2 (prostaglandin E2), PGE-MUM (prostaglandin E-major urinary metabolite)
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