HIOC

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 (HIOC) is a rare genetic disorder characterized by digital clubbing, periostosis, and pachydermia. It is also known as Touraine-Solente-Gole syndrome. The condition is caused by mutations in the HPGD gene and is inherited in an autosomal recessive manner.

Symptoms

The symptoms of HIOC typically include digital clubbing, periostosis, and pachydermia. Other symptoms may include excessive sweating (hyperhidrosis), thickening of the skin (hyperkeratosis), and seborrhea. The severity and onset of symptoms can vary among individuals.

Causes

HIOC is caused by mutations in the HPGD gene. This gene provides instructions for making an enzyme that breaks down a molecule called prostaglandin E2. Mutations in the HPGD gene reduce the activity of this enzyme, leading to an accumulation of prostaglandin E2. This accumulation is believed to cause the characteristic features of HIOC.

Diagnosis

Diagnosis of HIOC is based on the clinical symptoms and confirmed by genetic testing showing mutations in the HPGD gene.

Treatment

There is currently no cure for HIOC. Treatment is symptomatic and supportive, and may include pain management and physical therapy.

See also

• Digital clubbing
• Periostosis
• Pachydermia
• HPGD
• Autosomal recessive

References

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