Primary hypertrophic osteoarthropathy

Definition:

Primary hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 gene, which encodes 15-hydroxyprostaglandin dehydrogenase and prostaglandin transporter, were reported.

References:

[1]. Ghita Harifi, et al. Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. Joint Bone Spine. 2011 Mar;78(2):218-9. [Content Brief]

[2]. Sandeep Uppal, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008 Jun;40(6):789-93. [Content Brief]

[3]. Wenke Seifert, et al. HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. Eur J Hum Genet. 2009 Dec;17(12):1570-6. [Content Brief]

[4]. Zeng Zhang, et al. Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. J Clin Endocrinol Metab. 2013 May;98(5):E923-33. [Content Brief]

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