Case Report

Pachydermoperiostosis Masquerading as Spondyloarthritis: CaseReport of Therapeutic Response to Methotrexate and Etanercept

Maryam Haroon
Rheumatology Department, National Hospital Lahore & Postgraduate Medical Centre
Ammar Nawazish
Rheumatology Department, National Hospital Lahore & Postgraduate Medical Centre

✉ Correspondence: Maryam Haroon Email: ezamaryam911@gmail.com

DOI https://doi.org/10.70302/jpsim.v6i4.2572
Volume: 6, Issue 4 Pages: 382–384 Published: 21 Nov 2025
Received: 07 May 2025 Revised: 18 Aug 2025 Accepted: 09 Nov 2025 Published Online: 21 Nov 2025

Abstract

Pachydermoperiostosis (PDP), a rare genetic disorder previously known as primary hypertrophic osteoarthropathy (HOP), is characterised by pachydermia, digital clubbing and periostosis. Arthritis is a less common but important clinical feature, manifesting in adolescence or early childhood, often misdiagnosed as inflammatory arthritis (RA, PsA, SpA etc). Sometimes it mimics common metabolic bone diseases like rickets or hypophosphatasia. This case report explores the diagnostic journey of two siblings with heterogeneous age spectrum for disease onset, started with musculoskeletal deformities & digital clubbing, later targeting joints, causing synovitis with functional impact similar to other inflammatory arthritides, with good response to available therapeutic options including csDMARDs as well biologics. It also highlights major diagnostic challenges while differentiating PDP from other childhood rheumatological conditions among families with two or more similar cases. Consanguinity is a risk factor so; emphasis should be on genetic counselling in unravelling familial cases where genetic testing is unavailable.

Keywords
Pachydermoperiostosis primary hypertrophic osteoarthropathy arthritis digital clubbing familial inheritance.

How to Cite This Article

Haroon M, Nawazish A. Pachydermoperiostosis Masquerading as Spondyloarthritis: CaseReport of Therapeutic Response to Methotrexate and Etanercept. J Pak Soc Intern Med. 2025;6(4):382–384. doi:10.70302/jpsim.v6i4.2572

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Conflict of Interest

All authors declare no competing interests.

Disclosed in accordance with ICMJE and COPE guidelines.

Funding

No specific funding was received for this research.

Funder information follows the Crossref Funder Registry standard.

References

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  3. Smith J, Doe K. Genetic mutations in primary hypertrophic osteoarthropathy. J Clin Med. 2024;3(1):8.
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Reference list indexed for Google Scholar and ResearchGate. DOI links resolve via doi.org.

CC BY CC BY 4.0 This article is published under the Creative Commons Attribution 4.0 International License. May be shared and adapted with attribution. © 2025 Journal of Pakistan Society of Internal Medicine.
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