Sunanda Arun Mahajan Professor, Department of Dermatology, Seth GS Medical College and Kem Hospital, Mumbai, India
Ketki Shekhar Bhoite Assistant professor, Department of Dermatopathology, Seth GS Medical College and Kem Hospital, Mumbai, India
Siddhi Rajesh Patadia Senior Resident, Department of Dermatopathology, Seth GS Medical College and Kem Hospital, Mumbai, India
Address for correspondence: Sunanda Arun Mahajan, Professor, Department of Dermatology, Seth GS Medical College and Kem Hospital, Mumbai, India E-mail: sunandamahajan@gmail.com
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Ketki Shekhar Bhoite, Siddhi Rajesh Patadia, Sunanda Arun Mahajan, et al. Pachydermoperiostosis, Complete Form: A Case report of Rare Occurrence. RFP Jr of Drea 2025; 10(2): 59-62.
Timeline
Received : May 22, 2025
Accepted : September 27, 2025
Published : December 25, 2025
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 complete form of primary pachydermoperiostosis.
References
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Data Sharing Statement
There are no additional data available. All raw data and code are available upon request.
Funding
This research received no funding.
Author Contributions
All authors contributed significantly to the work and approve its publication.
Ethics Declaration
This article does not involve any human or animal subjects, and therefore does not require ethics approval.
Acknowledgements
We would like to express our gratitude to the patients, their families, and all those who have contributed to this study.
Conflicts of Interest
No conflicts of interest in this work.
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Cite this article
Ketki Shekhar Bhoite, Siddhi Rajesh Patadia, Sunanda Arun Mahajan, et al. Pachydermoperiostosis, Complete Form: A Case report of Rare Occurrence. RFP Jr of Drea 2025; 10(2): 59-62.
This license enables
reusers to distribute, remix, adapt, and build upon the material in any medium
or format for noncommercial purposes only, and only so long as attribution is
given to the creator.
This license enables
reusers to distribute, remix, adapt, and build upon the material in any medium
or format for noncommercial purposes only, and only so long as attribution is
given to the creator.
Description: A. Face shows diffuse thickening of the skin and furrowing along skin folds with enlarged nose and drooping of eyelids; B.
Bilateral ankle joint shows enlargement; C. Grade 4 digital clubbing is seen, with widening of the wrist joint.
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Description: A. X-ray of bilateral Hip joint, antero-posterior view- shows enlargement of diaphysis of bilateral femur with sub periosteal reaction and soft tissue swelling; B. X-ray of bilateral knee joint, antero-posterior and lateral views showing enlargement of the knee joints with subperiosteal reaction. X-ray of bilateral hand, wrist joint and forearm, antero-posterior view showing widening of the joints and subperiosteal reaction.
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Description: Histopathology of skin biopsy - hematoxylin and eosin stain at 10X magnification showed mucin deposition and
interwoven thick collagen in the dermis with hyperplasia and hypertrophy of sebaceous and eccrine glands