Abstract

Review Article

The Role of Genetic Mutations in the HPGD & SLCO2A1 Genes in Pachydermoperiostosis Syndrome

Shahin Asadi*, Arezo Zare and Sima Koohestani

Published: 01 May, 2025 | Volume 8 - Issue 1 | Pages: 001-005

Pachydermoperiostosis, also known as Primary Hypertrophic Osteoarthropathy (PHO), is a rare genetic disorder. The three main features are: enlarged fingertips (clubbing), thickened facial skin (pachydermia), and excessive sweating (hyperhidrosis). PHO is characterized by problems with skin and bone growth. Patients with PHO usually have coarse facial features with oily, thick, grooved skin on the face, joint pain, enlarged fingertips and toes, and hyperhidrosis of the hands and feet. Symptoms vary individually; however, men generally present with more severe manifestations. X-rays can help check for features that are not noticeable to the naked eye. There are two genes that are associated with PHO: the HPGD gene, located on the long arm of chromosome 4 at 4q34.1, and the SLCO2A1 gene, located on the long arm of chromosome 3 at 3q22.1 - q22.2. Mutations in the HPGD gene are inherited in an autosomal recessive manner, and the condition is sometimes abbreviated as PHOAR1 or Touraine-Solente-Gole syndrome.

Read Full Article HTML DOI: 10.29328/journal.jgmgt.1001013 Cite this Article Read Full Article PDF

Keywords:

Pachydermoperiostosis syndrome; Genetic disorder; Mutated genes; HPGD gene; SLCO2A1 gene

References

  1. Asadi S, Jamali M, Bagheri R, Dell SS. Pathology in Medical Genetic Books. Vol. 21 & 22. Iran: Amidi Publications; 2025. Available from: https://www.researchgate.net/publication/316861684_PATHOLOGY_IN_MEDICAL_GENETICS_2_M-Z
  2. Fauci AS, Braunwald E, Isselbacher KJ. editors. Harrison’s Principles of Internal Medicine. 20th ed. New York (NY): McGraw-Hill Companies. 2018.
  3. Griffiths C, Barker J, Bieiker T. Rook’s Textbook of Dermatology. 9th ed. London (UK): Wiley Blackwell Scientific Publications. 2016.
  4. 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(8):1459-68. Available from: https://www.researchgate.net/publication/352569346
  5. Marques P, Stelmachowska-Banas M, Collier D, Wernig F, Korbonits M. Pachydermoperiostosis mimicking the acral abnormalities of acromegaly. Endocrine. 2020;67(2):499–500. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033267/
  6. Joshi A, Nepal G, Shing YK, Panthi HP, Baral S. Pachydermoperiostosis (Touraine–Solente–Gole syndrome): a case report. J Med Case Reports. 2019;13:39. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362496/
  7. Yuan L, Liao RX, Lin YY, Jiang Y, Wang O, Li M, et al. Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: a single-arm intervention trial. J Orthop Translat. 2019;18:109-18. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546478/
  8. Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature. Orphanet J Rare Dis. 2019;14:297. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828001/
  9. Yuan L, Chen X, Liu Z, Wu D, Lu J, Bao G, et al. Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis. Endocr Connect. 2018;7(11):116-28. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231361/
  10. Li SS, He JW, Fu WZ, Liu YJ, Hu YQ, Zhang ZL. Clinical, biochemical, and genetic features of 41 Han Chinese families with primary hypertrophic osteoarthropathy, and their therapeutic response to etoricoxib: results from a six-month prospective clinical intervention. J Bone Miner Res. 2017;32(8):1659-66. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539869/
  11. Lee S, Park SY, Kwon HJ, Lee CH, Kim OH, Rhee Y. Identification of the mutations in the prostaglandin transporter gene, SLCO2A1 and clinical characterization in Korean patients with pachydermoperiostosis. J Korean Med Sci. 2016;31(5):735-42. Available from: https://doi.org/10.3346/jkms.2016.31.5.735
  12. Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL. Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. J Clin Endocrinol Metab. 2013;98(5):E923-E933. Available from: https://doi.org/10.1210/jc.2012-3568
  13. Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Online Mendelian Inheritance in Man (OMIM). Hum Mutat. 2000;15(1):57-61. Available from: https://doi.org/10.1002/(sici)1098-1004(200001)15:1%3C57::aid-humu12%3E3.0.co;2-g
  14. Medscape. 2021. Available from: https://emedicine.medscape.com/article/1075122-overview
  15. Pachydermoperiostosis. Orphanet. 2011. Available from: https://www.orpha.net/en/disease/detail/2796

Figures:

Figure 1

Figure 1

Figure 1

Figure 2

Figure 1

Figure 3

Figure 1

Figure 4

Figure 1

Figure 5

Figure 1

Figure 6

Figure 1

Figure 7

Figure 1

Figure 8

Figure 1

Figure 9

Figure 1

Figure 10

Figure 1

Figure 11

Figure 1

Figure 12

Figure 1

Figure 13

Similar Articles

Recently Viewed

  • Acute Gas Toxicity at Work: A Tale of Two Cases with Review of Literature
    Rishabh Kumar Singh, Jitender Pratap Singh, Manjari Kishore* and HM Garg Rishabh Kumar Singh,Jitender Pratap Singh,Manjari Kishore*,HM Garg. Acute Gas Toxicity at Work: A Tale of Two Cases with Review of Literature. J Forensic Sci Res. 2025: doi: 10.29328/journal.jfsr.1001091; 9: 125-128
  • The Need of Wider and Deeper Skin Biopsy in Verrucous Carcinoma of the Sole
    Luca Damiani*, Giuseppe Argenziano, Andrea Ronchi, Francesca Pagliuca, Emma Carraturo, Vincenzo Piccolo and Gabriella Brancaccio Luca Damiani*,Giuseppe Argenziano,Andrea Ronchi,Francesca Pagliuca,Emma Carraturo,Vincenzo Piccolo,Gabriella Brancaccio. The Need of Wider and Deeper Skin Biopsy in Verrucous Carcinoma of the Sole. Ann Dermatol Res. 2025: doi: 10.29328/journal.adr.1001036; 9: 005-007
  • Comparative Analysis of Water Wells and Tap Water: Case Study from Lebanon, Baalbeck Region
    Chaden Moussa Haidar, Ali Awad, Walaa Diab, Farah Kanj, Hassan Younes, Ali Yaacoub, Marwa Rammal and Alaa Hamze Chaden Moussa Haidar, Ali Awad, Walaa Diab, Farah Kanj, Hassan Younes, Ali Yaacoub, Marwa Rammal, Alaa Hamze. Comparative Analysis of Water Wells and Tap Water: Case Study from Lebanon, Baalbeck Region. Insights Vet Sci. 2024: doi: 10.29328/journal.ivs.1001043; 8: 018-027
  • A Case Report of Hepatic Rupture Associated with Hellp Syndrome
    Sena-Martins M*, Daher PGS, Tadini V, Loprete GB, Nakata T, Mantuan L, Stefani NR, Vissechi-Filho CR, Souza GN and Sakita M Sena-Martins M*,Daher PGS,Tadini V,Loprete GB,Nakata T,Mantuan L,Stefani NR,Vissechi-Filho CR,Souza GN,Sakita M. A Case Report of Hepatic Rupture Associated with Hellp Syndrome. Clin J Obstet Gynecol. 2025: doi: 10.29328/journal.cjog.1001192; 8: 077-079
  • Forensic Analysis of WhatsApp: A Review of Techniques, Challenges, and Future Directions
    Nishchal Soni* Nishchal Soni*. Forensic Analysis of WhatsApp: A Review of Techniques, Challenges, and Future Directions. J Forensic Sci Res. 2024: doi: 10.29328/journal.jfsr.1001059; 8: 019-024

Read More

Most Viewed

Read More

Help ?