Case Report
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Touraine–Solente-Gole Syndrome : a case report

Year 2021, Volume: 13 Issue: 1, 36 - 41, 30.06.2021

Abstract

Touraine–Solente-Gole Syndrome (TSGS) or pachydermoperiostosis is a rare disorder characterized by pachydermia, periostosis and digital clubbing. It is a clinical variant of primary hypertrophic osteoarthropathy, for which the etiopathogenesis is not fully known. It is seen more often in males and I have not found a female case in the literature. The case presented here is of a female patient who presented with digital clubbing in the hands and feet, periostosis, cutis verticis gyrate, and arthralgia.

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References

  • 1.Castor M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. Pachydermoperiostosis: an update. Clin Genet 2005;68:477-486.
  • 2. Santos-Durán JC, Yuste-Chaves M, Martínez-González O, Alonso-San Pablo MT, Sánchez-Estella J. Pachydermoperiostosis (Touraine-Solente-Golé syndrome). Case report. Actas Dermatosifiliogr 2007;38:116-120.
  • 3.Jajic I, Jajic Z. Prevalence of primary hypertrophic osteoarthropathy in selected population. Clin Ex Rheum. 1992;10:73.
  • 4.Friedreich N. Hyperostose des gesammten Skelettes. Virchows Arch Anat.1868;43:83–7.
  • 5.Touraine A, Solente G, Golé L. Un syndrome ostéodermatopathique: la pachydermie plicaturée avec pachyériostose des extrémités. Press Med. 1935;43:1820–4.
  • 6. Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SE, Markham AF, Bennett CP. Mutations in 15- hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008;40(6):789.
  • 7. Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, Seki A. Kabashima K, Otsuka A, Ishiko A, Tanese K. 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.
  • 8. Alaya Z, Boussofara L, Bouzaouache M, Amri D, Zaghouani H, Bouajina E. Complete form pachydermoperiostosis in Tunisia – A case series and literature review. Egypt Rheumatol. 2018;40(2):127–30.
  • 9.Resnick D. Enostosis, hyperostosis, and periostitis: In: Resnick D, Kransdorf MJ, editors. Bone and joint imaging. 3rd ed. Philadelphia, PA: Elsevier Saunders, 2005:1433-1435.
  • 10.Farajev ZH, Amirova IA, Babazarov IZ, Veliyeva NZ, Babazarova PZ, Babazarov HZ. Touraine Solente Gole Syndrome (Pachydermoperiostosis): Case Report and Brief Review. J Turk Acad Dermatol 2020;14:60-63.
  • 11. Yuksel-Konuk B, Sirmaci A, Ayten GE, Özdemir M, Aslan İ, Yılmaz-Turay Ü, Erdoğan Y, Tekin M. Homozygous mutation s in the 15 Hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. Rheumatol Int 2009;30:39-43.
  • 12.Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, et al. Hypertrophic osteoarthropathy: clinical and imaging features. Radiographics 2017;37:157–95.
  • 13.Tanese K, Niizeki H, Seki A, Otsuka A, Kabashima K, Kosaki K, et al. Pathological characterization of pachydermia in pachydermoperiostosis. J Dermatol 2015;42:710–4.
  • 14. Pineda C, Martínez-Lavín M. Hypertrophic osteoarthropathy: what a rheumatologist should know about this uncommon condition. Rheum Dis Clin North Am 2013;39:383–400.
  • 15. da Costa FV, de Magalhães Souza Fialho SC, Zimmermann AF, Neves FS, Werner de Castro GR, Pereira IA. Infliximab treatment in pachydermoperiostosis: a rare disease without an effective therapeutic option. J Clin Rheumatol 2010;16:183–4.

Touraine–Solente-Gole Syndrome: A Case Report

Year 2021, Volume: 13 Issue: 1, 36 - 41, 30.06.2021

Abstract

Touraine-Solente-Gole Sendromu (TSGS) veya pakidermoperiostoz, pakidermi, periostoz ve parmaklarda çomaklaşma ile karakterize nadir bir hastalıktır. Erkek-kadın oranı 9: 1 olarak bildirilmiştir ve tahmini yaygınlık yaklaşık% 0.16'dır. TSGS idiyopatik veya kalıtsal olabilir. Etiyopatogenezi tam olarak bilinmeyen primer hipertrofik osteoartropatinin klinik bir varyantıdır. Erkeklerde daha sık görülmektedir ve literatürde kadın vakaya rastlamadım. Burada sunulan vaka, el ve ayaklarda parmakla çomaklaşma, periostoz, cutis verticis gyrate ve artralji ile başvuran bir kadın hastaya aittir.

Project Number

-

References

  • 1.Castor M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. Pachydermoperiostosis: an update. Clin Genet 2005;68:477-486.
  • 2. Santos-Durán JC, Yuste-Chaves M, Martínez-González O, Alonso-San Pablo MT, Sánchez-Estella J. Pachydermoperiostosis (Touraine-Solente-Golé syndrome). Case report. Actas Dermatosifiliogr 2007;38:116-120.
  • 3.Jajic I, Jajic Z. Prevalence of primary hypertrophic osteoarthropathy in selected population. Clin Ex Rheum. 1992;10:73.
  • 4.Friedreich N. Hyperostose des gesammten Skelettes. Virchows Arch Anat.1868;43:83–7.
  • 5.Touraine A, Solente G, Golé L. Un syndrome ostéodermatopathique: la pachydermie plicaturée avec pachyériostose des extrémités. Press Med. 1935;43:1820–4.
  • 6. Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SE, Markham AF, Bennett CP. Mutations in 15- hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008;40(6):789.
  • 7. Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, Seki A. Kabashima K, Otsuka A, Ishiko A, Tanese K. 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.
  • 8. Alaya Z, Boussofara L, Bouzaouache M, Amri D, Zaghouani H, Bouajina E. Complete form pachydermoperiostosis in Tunisia – A case series and literature review. Egypt Rheumatol. 2018;40(2):127–30.
  • 9.Resnick D. Enostosis, hyperostosis, and periostitis: In: Resnick D, Kransdorf MJ, editors. Bone and joint imaging. 3rd ed. Philadelphia, PA: Elsevier Saunders, 2005:1433-1435.
  • 10.Farajev ZH, Amirova IA, Babazarov IZ, Veliyeva NZ, Babazarova PZ, Babazarov HZ. Touraine Solente Gole Syndrome (Pachydermoperiostosis): Case Report and Brief Review. J Turk Acad Dermatol 2020;14:60-63.
  • 11. Yuksel-Konuk B, Sirmaci A, Ayten GE, Özdemir M, Aslan İ, Yılmaz-Turay Ü, Erdoğan Y, Tekin M. Homozygous mutation s in the 15 Hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. Rheumatol Int 2009;30:39-43.
  • 12.Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, et al. Hypertrophic osteoarthropathy: clinical and imaging features. Radiographics 2017;37:157–95.
  • 13.Tanese K, Niizeki H, Seki A, Otsuka A, Kabashima K, Kosaki K, et al. Pathological characterization of pachydermia in pachydermoperiostosis. J Dermatol 2015;42:710–4.
  • 14. Pineda C, Martínez-Lavín M. Hypertrophic osteoarthropathy: what a rheumatologist should know about this uncommon condition. Rheum Dis Clin North Am 2013;39:383–400.
  • 15. da Costa FV, de Magalhães Souza Fialho SC, Zimmermann AF, Neves FS, Werner de Castro GR, Pereira IA. Infliximab treatment in pachydermoperiostosis: a rare disease without an effective therapeutic option. J Clin Rheumatol 2010;16:183–4.
There are 15 citations in total.

Details

Primary Language English
Subjects Clinical Sciences
Journal Section Case Report
Authors

Ayşe Ünal Enginar 0000-0003-0273-6268

Project Number -
Publication Date June 30, 2021
Published in Issue Year 2021 Volume: 13 Issue: 1

Cite

APA Ünal Enginar, A. (2021). Touraine–Solente-Gole Syndrome : a case report. International Archives of Medical Research, 13(1), 36-41.
AMA Ünal Enginar A. Touraine–Solente-Gole Syndrome : a case report. IAMR. June 2021;13(1):36-41.
Chicago Ünal Enginar, Ayşe. “Touraine–Solente-Gole Syndrome : A Case Report”. International Archives of Medical Research 13, no. 1 (June 2021): 36-41.
EndNote Ünal Enginar A (June 1, 2021) Touraine–Solente-Gole Syndrome : a case report. International Archives of Medical Research 13 1 36–41.
IEEE A. Ünal Enginar, “Touraine–Solente-Gole Syndrome : a case report”, IAMR, vol. 13, no. 1, pp. 36–41, 2021.
ISNAD Ünal Enginar, Ayşe. “Touraine–Solente-Gole Syndrome : A Case Report”. International Archives of Medical Research 13/1 (June 2021), 36-41.
JAMA Ünal Enginar A. Touraine–Solente-Gole Syndrome : a case report. IAMR. 2021;13:36–41.
MLA Ünal Enginar, Ayşe. “Touraine–Solente-Gole Syndrome : A Case Report”. International Archives of Medical Research, vol. 13, no. 1, 2021, pp. 36-41.
Vancouver Ünal Enginar A. Touraine–Solente-Gole Syndrome : a case report. IAMR. 2021;13(1):36-41.

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