Current issue
Archive
About the Journal
About us
Aims and Scope
Indexing and Abstracting
Editorial Office
Open Access Policy
Publication Ethics
Contact
For Authors
Editorial Policy
Peer Review Policy
Manuscript Preparation Guidelines
Copyright & Licensing
Publication Fees
Fast-Track Paper Publication Option
Conflict Interest Guidance
Submit an Article
Special Issues
News & Editorials
“Fake,” “Predatory,” and “Pseudo” Journals: Charlatans Threatening Trust in Science
Shifting the Journal submission-review system to the Editorial System Manuscript December 27, 2017.
CASE REPORT
Complete pachydermoperiostosis: A case report
1
Department of Family Medicine, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, MALAYSIA
2
Hospital Universiti Sains Malaysia, Jalan Raja Perempuan Zainab 2, Kubang Kerian, Kelantan, MALAYSIA
3
Klinik Kesihatan Gunong, Bachok, Kelantan, MALAYSIA
Online publication date: 2023-11-15
Publication date: 2024-01-01
Electron J Gen Med 2024;21(1):em554
KEYWORDS
ABSTRACT
Pachydermoperiostosis (PDP), also known as Touraine-Solente-Gole syndrome or primary hypertrophic
osteoarthropathy, is a very rare disease mainly characterized by pachyderma, finger clubbing, hyperhidrosis, and
periostosis. We reported a case of a patient who suffered from gradual pain and enlargement of both hands and
feet for 25 years despite receiving treatment from multiple clinics. He also experienced gradual abnormal changes
in his face and scalp. Radiographic images of the lower limbs revealed the presence of subperiosteal bone growth
and periosteal hypertrophy. The diagnosis of complete PDP was made late due to its rarity and the unfamiliarity
of medical practitioners with the diagnosis. This case highlighted the need for medical practitioners to be aware
of rare diseases so that patients may be diagnosed and treated earlier and thereby relieving their anxiety and
improve their quality of life.
REFERENCES (18)
1.
Lu Q, Xu Y, Zhang Z, Li S, Zhang Z. Primary hypertrophic osteoarthropathy: Genetics, clinical features and management. Front Endocrinol (Lausanne). 2023; 14:1235040. https://doi.org/10.3389/fendo.... PMid:37705574 PMCid:PMC10497106.
2.
Uppal S, Diggle CP, Carr IM, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008;40(6):789-93. https://doi.org/10.1038/ng.153 PMid:18500342.
3.
Lee S, Park SY, Kwon HJ, Lee C-H, Kim O-H, Rhee Y. Identification of the mutations in prostaglandin transporter gene, SLCO2A1 and clinical characterization in Korean patients with pachydermoperiostosis. J Korean Med Sci. 2016;31(5):735-42. https://doi.org/10.3346/jkms.2... PMid:27134495 PMCid:PMC4835599.
4.
Ishizuka T, Fujioka K, Mori I, et al. Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutationof SLCO2A1. Mod Rheumatol Case Rep. 2021;5(2): 404-8. https://doi.org/10.1080/247256... PMid:33308032.
5.
Diggle CP, Parry DA, Logan CV, et al. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat. 2012;33(8):1175-81. https://doi.org/10.1002/humu.2... PMid:22553128.
6.
Niizeki H, Shiohama A, Sasaki T, et al. The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLCO2A1 gene. J Dermatol Sci. 2014;75(3):193-5. https://doi.org/10.1016/j.jder... PMid:24929850.
7.
Madruga Dias JAC, Rosa RS, Perpétuo I, et al. Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation–Case report and review of literature. Semin Arthritis Rheum. 2014;43(4):566-9. https://doi.org/10.1016/j.sema... PMid:24012041.
8.
Sasaki T, Niizeki H, Shimizu A, et al. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci. 2012;68(1):36-44. https://doi.org/10.1016/j.jder... PMid:22906430.
9.
Supradeeptha C, Shandilya SM, Reddy KV, Satyaprasad J. Pachydermoperiostosis–A case report of complete form and literature review. J Clin Orthop Trauma. 2014;5(1):27-32. https://doi.org/10.1016/j.jcot... PMid:25983465 PMCid:PMC4009462.
10.
Baniya A, Bhattarai A, Devkota B, et al. Complete form of pachydermoperiostosis with good initial response to etoricoxib: A case report. Clin Case Rep. 2023;11(6):e7526. https://doi.org/10.1002/ccr3.7... PMid:37323289 PMCid:PMC10264919.
11.
Prerna, Ghosh R, Barua JK, Das AK. Pachydermoperiostosis mimicking acromegaly: A case report. Indian Dermatol Online J. 2018;9(3):182-4. https://doi.org/10.4103/idoj.I... PMid:29854639 PMCid:PMC5956866.
12.
González LA, Quintero-González DC, Vanegas-García AL. Digital clubbing, joint pain, and skin changes in a young man: Primary hypertrophic osteoarthropathy. Clin Rheumatol. 2022;41(10):3253-5. https://doi.org/10.1007/s10067... PMid:35708829.
13.
Martinez-Lavin M. Pachydermoperiostosis. Best Pract Res Clin Rheumatol. 2011;25(5):727-34. https://doi.org/10.1016/j.berh... PMid:22142750.
14.
Krugh M, Vaidya PN. Hypertrophic osteoarthropathy. StatPearls. Treasure Island, FL (USA): StatPearls Publishing; 2023.
15.
Akaranuchat N, Limsuvan P. Touraine-Solente-Gole syndrome: Clinical manifestation with bilateral true eyelid ptosis. JPRAS Open. 2019;21:6-13. https://doi.org/10.1016/j.jpra... PMid:32158879 PMCid:PMC7061552.
16.
Hlaing SS, Field AY, Mowatt LL, et al. Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: A rare case report. Pan Afr Med J. 2023;45:88. https://doi.org/10.11604/pamj.... PMid:37663630 PMCid:PMC10474806.
17.
Mukherjee B, Alam S. A rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids. Indian J Ophthalmol. 2016;64(12):938-40. https://doi.org/10.4103/0301-4... PMid:28112140 PMCid:PMC5322714.
18.
Glick J, Kaur RR, Taylor G. Pachydermoperiostosis vs. acromegaly in a patient with cutis verticis gyrata. J Clin Exp Dermatol Res. 2012;3:142. https://doi.org/10.4172/2155-9....
| eISSN: | 2516-3507 |
We process personal data collected when visiting the website. The function of obtaining information about users and their behavior is carried out by voluntarily entered information in forms and saving cookies in end devices. Data, including cookies, are used to provide services, improve the user experience and to analyze the traffic in accordance with the Privacy policy. Data are also collected and processed by Google Analytics tool (more).
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
