Touraine–Solente–Golé syndrome

Touraine–Solente–Golé syndrome (TSG), also known as Pachydermoperiostosis or Primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by skin changes (pachydermia), excessive sweating (hyperhidrosis), and bone and joint abnormalities (periostosis).

Symptoms

The symptoms of Touraine–Solente–Golé syndrome typically appear during adolescence or early adulthood. The most common symptoms include pachydermia, which is thickening of the skin, and hyperhidrosis, which is excessive sweating. Other symptoms may include arthralgia, which is joint pain, and periostosis, which is new bone formation often around the distal ends of long bones.

Causes

Touraine–Solente–Golé syndrome is caused by mutations in the HPGD or SLCO2A1 genes. These genes are involved in the breakdown of certain prostaglandins, which are hormone-like substances that play a role in a wide variety of body functions such as the contraction and relaxation of smooth muscle, the dilation and constriction of blood vessels, control of blood pressure, and modulation of inflammation.

Diagnosis

Diagnosis of Touraine–Solente–Golé syndrome is based on the clinical symptoms and confirmed by genetic testing. Imaging studies such as X-ray or MRI may be used to detect bone changes.

Treatment

There is currently no cure for Touraine–Solente–Golé syndrome. Treatment is symptomatic and may include medications to manage pain and inflammation, skin care to manage the pachydermia and hyperhidrosis, and in some cases, surgery to correct bone deformities.

Epidemiology

Touraine–Solente–Golé syndrome is extremely rare, with fewer than 200 cases reported in the medical literature. It affects males more frequently than females, and has been reported in individuals of various ethnic backgrounds.

See also

• Genetic disorder
• Pachydermia
• Hyperhidrosis
• Periostosis

NIH genetic and rare disease info

• NIH info on Touraine–Solente–Golé syndrome

Touraine–Solente–Golé syndrome is a rare disease.

Touraine–Solente–Golé syndrome Resources
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