Pachydermoperiostosis - a case report

Rushma Shrestha, Niraj Parajuli, Anupama Karki

Abstract


Pachydermoperiostosis is a rare autosomal dominant condition but autosomal recessive families probably can also occur. At least two gene mutations have been implicated, namely HPGD and SLCO2A1. This condition usually presents at puberty with progressive enlargement of the joints due to pachydermia, periostosis, and clubbing. Disease progresses for 5–20 years before stabilizing. We describe a case of 22 year old male who presented with thickened skin on the face and scalp (resembling cutis verticis gyrata), palmoplantar hyperhidrosis and clubbing.

Keywords


Pachydermoperiostosis, cutis verticis gyrata, hyperhidrosis, clubbing

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References


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