Touraine-Solente-Gole syndrome

Orbit. 2018 Apr;37(2):97-101. doi: 10.1080/01676830.2017.1383459. Epub 2017 Oct 17.


Touraine-Solente-Gole syndrome, also known as Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy, is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of Touraine-Solente-Gole syndrome with bilateral blepharoptosis as presenting feature.

Keywords: Pachydermia; arthritis; blepharoptosis; finger clubbing; pachydermoperiostosis; periostosis; primary hypertrophic osteoarthropathy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blepharoptosis / diagnosis*
  • Consanguinity
  • Diagnosis, Differential
  • Humans
  • Intraocular Pressure
  • Male
  • Osteoarthropathy, Primary Hypertrophic / diagnosis*
  • Osteoarthropathy, Secondary Hypertrophic / diagnosis
  • Rare Diseases / diagnosis
  • Visual Acuity