Pachydermoperiostosis (Touraine-Solente-Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy

Authors

  • Fatima Khurshid Department of Medicine and Rehumatology, Ali Fatima Hospital, Lahore, Pakistan.
  • Kinza Shahid Randhawa Department of Medicine, Ali Fatima Hospital, Lahore, Pakistan.
  • Fatima Khurshid Department of Radiation and Oncology, Shifa International Hospital, Islambad, Pakistan.
  • Memoona Khalid Department of Radiology, Ali Fatima Hospital, Lahore, Pakistan.

Keywords:

Digital Clubbing, Primary Hypertrophic Osteoarthropathy, Pachydermoperiostosis, Periostosis, Touraine-Solente-Gole Syndrome

Abstract

Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy (PHO), also known as the
Touraine–Solente–Gole syndrome, is an autosomal dominant genetic disorder that is rare and is identified by finger clubbing, skin thickening, and periosteal growth. This case study details the case of a 21-year-old man with PDP to raise awareness, improve diagnosis, and enhance management strategies for the condition. The individual showed common signs like digital clubbing, pachydermia, and periostosis, as well as related symptoms like hyperhidrosis. Radiological imaging supported the diagnosis by revealing periosteal reactions and cortical thickening in multiple bones. Other conditions with comparable clinical characteristics were considered in the differential diagnosis, however, the diagnosis of PHO was confirmed by the specific radiological results and normal hormonal levels. The treatment primarily targets alleviating symptoms with drugs like Non steroidal antiinflamatory drugs (NSAIDs) and corticosteroids, along with newer options such as bisphosphonates. Timely detection and correct treatment are essential to enhance the well-being of people with PHO. This case study emphasizes the significance of tracking symptoms and offering thorough care to those with PDP/PHO.

Downloads

Download data is not yet available.

References

Honorio MLP, Bezerra GH, Costa VLDC. Complete form of pachydermoperiostosis. An Bras Dermatol 2020; 95:98-101 doi:10.1016/j.abd.2019.04.009

Guan Y, Deng H, Dong Q, Wang J. Clinical outcomes of utilizing a w-shaped incision in the management of

forehead skin thickening induced by hypertrophic osteoarthropathy. Aesthetic Plast Surg 2024; 48:2375-81

doi:10.1007/s00266-024-04073

Baniya A, Bhattarai A, Devkota B, Khatiwada S, Kafle PK, Phuyal AK, et al. Complete form of pachydermoperiostosis with good initial response to etoricoxib: A case report. Clin Case Rep 2023 13;11:e7526. doi:10.1002/ccr3.7526

Kartal Baykan E, Türkyılmaz A. Differential diagnosis of acromegaly: Pachydermoperiostosis two new cases

from Turkey. J Clin Res Pediatr Endocrinol 2022 25;14:350-5. doi:10.4274/jcrpe.galenos.2021.2020.0301

Honorio MLP, Bezerra GH, Costa VLDC. Complete form of pachydermoperiostosis. An Bras Dermatol

;95:98-101. doi:10.1016/j.abd.2019.04.009

Joshi A, Nepal G, Shing YK, Panthi HP, Baral S. Pachydermoperiostosis (Touraine-Solente-Gole

syndrome): A case report. J Med Case Rep 2019 21;13:39. doi:10.1186/s13256-018-1961-z

Nakanishi T, Nakamura Y, Umeno J. Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action. Pharmacol Ther 2021;223:107803. doi:10.1016/j.pharmthera.2021.107803

Ajani AA, Owolabi FA, Ologun O, Oninla OA, Enitan A, Olasode O. Complete pachydermoperiostosis with

xxx J Dow Univ Health Sci 2025, Vol. xx (x): xx-xxx Islam et al. Pachydermoperiostosis: A Case Report

diffuse keratoderma mimicking thyroid Acropachy: A case report and review of literature. Ibom Medical

Journal 2023 1;16:98-104. doi:10.61386/imj.v16i1.301

Xu Y, Zhang Z, Yue H, Li S, Zhang Z. Monoallelic mutations in SLCO2A1 cause autosomal dominant primary

hypertrophic osteoarthropathy. J Bone Miner Res 2021;36:1459-68. doi:10.1002/jbmr.4310

Wang Y, Wang S, Zheng L, Wan X, Wang H, Zhong Z, et al. Synovitis, Acne, Pustulosis, Hyperostosis, and osteitis (SAPHO) syndrome with Cutis Verticis Gyrata: Case report and review of literature. Clin Cosmet Investig Dermatol 2022 23;15:1415-20.doi:10.2147/CCID.S372522

Nicolau R, Beirao T, Guimaraes F, Aguiar F, Ganhao S, Rodrigues M, et al. Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing. Pediatr Rheumatol Online J 2023 24;21:48. doi: 10.1186/s12969-023-00831-w

Gomes RR. Pachydermoperiostosis (Touraine-SolenteGole syndrome) imitating Acromegaly. Int Clin Img and Med Rew 2022;3:1131. doi: 10.55920/IJCIMR.2022.04.001131

Abdul Mubing MF, Abdul Rahman R, Badrin S, Ibrahim H. Complete pachydermoperiostosis: A case report. Electron J Gen Med 2024; 21: em554. doi:10.29333/ejgm/13900

Long B, Tang H, Zhao X, Yang C, He T, Zhang W, et al. Chronic enteropathy associated with SLCO2A1-associated primary hypertrophic osteoarthropathy in female patient: A case report and literature review.

doi:10.21203/rs.3.rs-1060971/v1

Nailah AM, Abu-Nayla IA, Abu-Nayla UA. Pachydermoperiostosi (PDP): A case report. J App med sci

;10:1-8.doi:10.47260/jams/1021

Riad Chiheub RC. Incomplete form of pachydermoperiostosis: A case report. Alger J Med and Health Res

;2:137-44.

Nakano Y, Ohata Y, Fujiwara M, Kubota T, Miyoshi Y, Ozono K. A patient with pachydermoperiostosis

harboring SLCO2A1 variants with a history of differentiating from acromegaly. Bone Rep 2023

;18:101673. doi:10.1016/j.bonr.2023.101673

Vaidya N, Acharya N, Katila S, Adhikari S, Pandey U. Pachydermoperiostosis: a case report of initial

improvement with etoricoxib. Ann Med Surg (Lond) 2023 14;85:5153-7. doi: 10.1097/MS9.0000000000001146

Li Z, Yang Q, Yang Y, Wang D, Wang S. Successful treatment of pachydermoperiostosis with etoricoxib in

a patient with a homozygous splice-site mutation in the SLCO2A1 gene. Br J Dermatol 2019;180:682-4.

doi:10.1111/bjd.14480

Feng Y, Wang A, Dong X, Li C, Yuan K, Huang G, et al. Coincidence of pachydermoperiostosis and synovitis, acne, pustulosis, hyperostosis, osteitis syndrome, a causal or casual association?. International Journal of Rheumatic Diseases 2022; 25:1328-32. doi:10.1111/1756-185X.14418

Downloads

Published

2025-03-25

How to Cite

Khurshid, F., Randhawa, K. S., Khurshid, F., & Khalid, M. (2025). Pachydermoperiostosis (Touraine-Solente-Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy. Journal of the Dow University of Health Sciences (JDUHS), 4(09). Retrieved from https://jduhs.com/index.php/jduhs/article/view/2209

Issue

Section

Case Report