Pachydermoperiostosis: a case report
https://doi.org/10.14341/osteo2017252-57
Abstract
Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually over the years prior to disease stabilization. Two genes are reported to be associated with PHO – HPGD and SLCO2A1. These genes are involved in prostaglandin E2 metabolism.
We present a description of a 19-year-old patient with PHO. We found two mutations in the SLCO2A1 gene: p.Gly183Ar (chr3:133673888, NM_005630.2:c.547G>A) and p.Cys444Gly (chr3:133664070, NM_005630.2:c.1330T>G) through molecular genetic analysis. The mutation (p.Cys444Gly) has never been recorded in previous studies.
This work expands our knowledge of the mutation spectrum of PHO, which will facilitate faster genetic diagnosis and interpretation of genetic information in prenatal diagnosis and genetic counseling.
About the Authors
Valentina A. FursenkoEndocrinology Research Centre
Russian Federation
Tatiana A. Grebennikova
Endocrinology Research Centre
Russian Federation
Alexey G. Nikitin
Federal Research Clinical Centre for Specialized Types of Health care and Medical technologies of FMBA
Russian Federation
PhD
Zhanna E. Belaya
Endocrinology Research Centre
Russian Federation
MD, PhD, Professor
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For citations:
Fursenko V.A., Grebennikova T.A., Nikitin A.G., Belaya Zh.E. Pachydermoperiostosis: a case report. Osteoporosis and Bone Diseases. 2017;20(2):52-57. (In Russ.) https://doi.org/10.14341/osteo2017252-57
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