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

Abstract

Pachydermoperiostosis (PDP) is an autosomal recessive hereditary disease that has three diagnostic features: digital clubbing, periostosis, and pachydermia, including cutis verticis gyrata (CVG) (Castori et al., 2005). 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.