Abstract
Pachydermoperiostosis is a rare genetic disease, related to the mutation of HPGD gene and SLCO2A1 gene, which lead to the catabolism anomalies of the prostaglandin E2 (PGE2). Pachydermoperiostosis is more likely to occur in male, characterized as pachyderma, clubbed fingers, and periostosis. Other common clinical manifestation includes seborrhea, blepharoptosis, hyperhidrosis and arthralgia. Diagnosis and differential diagnosis depend mainly on clinical manifestation, laboratory examination and radiological findings. There is no good treatment, mainly to perform symptomatic therapy. Oral non-steroidal anti-inflammatory drugs (NSAIDs) such as etoricoxib, is proved to be effective. Cosmetic surgery or injection of botulinum toxin type-A(BTX-A) is effective in improving facial appearence.
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Zhang, M., Guo, H., Zheng, S., Gao, XH., Li, JH., Lin, ZT. (2022). A Young Man with Clubbed Fingers and Toes. In: Satolli, F., Tirant, M., Wollina, U., Lotti, T.M. (eds) Clinical Cases in Pediatric Skin Cancers. Clinical Cases in Dermatology. Springer, Cham. https://doi.org/10.1007/978-3-030-93666-2_18
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DOI: https://doi.org/10.1007/978-3-030-93666-2_18
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