Previously submitted to: JMIR Dermatology (no longer under consideration since May 06, 2024)
Date Submitted: Jan 12, 2024
Warning: This is an author submission that is not peer-reviewed or edited. Preprints - unless they show as "accepted" - should not be relied on to guide clinical practice or health-related behavior and should not be reported in news media as established information.
Pachydermoperiostosis, complete form : A case report of rare occurrence.
ABSTRACT
Pachydermoperiostosis is a rare genetic disorder featuring a triad of pachydermia, periostosis and digital clubbing. It is either caused by the mutations in the HPGD (AR inheritance) or SLCO2A1 gene (AD inheritance), resulting in elevated prostaglandins E2 levels. It can be classified on the basis of presence or absence of underlying cardiac, pulmonary or hepatic disease as primary or secondary. We hereby report a case of primary pachydermoperiostosis, a 31 years old male with the complete triad and associated hypothyroidism.
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