Pachydermoperiostosis (Touraine–Solente–Gole syndrome): A case report and literature review
Xiaohan Hu, Min Li, Zhou ZhouRationale:
Pachydermoperiostosis (PDP) is a rare genetic disorder characterized by the triad of pachyderma, digital clubbing, and periostosis. We report the case of a 17-year-old male who presented with classic clinical features over 3 years, including progressive skin thickening on the forehead, joint pain and swelling, hyperhidrosis, and facial oiliness, leading to a clinical and radiological diagnosis of PDP.
Patient concerns:
The patient exhibited pronounced forehead folds, oily skin with acneiform lesions, digital clubbing, and severe bilateral knee swelling.
Diagnoses:
Laboratory investigations and most imaging studies were unremarkable. Crucially, lower leg radiographs identified cortical periosteal thickening. Genetic testing for 15-hydroxyprostaglandin dehydrogenase (HPGD) and Solute Carrier Organic Anion Transporter Family Member 2A1 (SLCO2A1) mutations was recommended but declined. A diagnosis of PDP was made based on the classic clinical triad.
Interventions:
The patient was treated with oral isotretinoin (20 mg once daily) and diclofenac (50 mg twice daily).
Outcomes:
Post-treatment, the patient reported improvement in facial oiliness and joint symptoms. During a five-year follow-up, the patient’s condition stabilized with no signs of regression.
Lessons:
Diagnosis is primarily clinical and radiological; genetic testing for HPGD/SLCO2A1 mutations can confirm the diagnosis but was declined in this case. Management relies on non-steroidal anti-inflammatory drugs for joint symptoms, with isotretinoin offering additional benefit for cutaneous manifestations. Long-term follow-up is advised.