What is the definition of Pachydermoperiostosis?
Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported. Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition. Treatment is aimed at addressing the specific symptoms present in each individual and may include nonsteroidal anti-inflammatory medications for pain and swelling of joints, retinoid treatment of skin symptoms, and plastic surgery for facial involvement.
What are the alternative names for Pachydermoperiostosis?
- Primary hypertrophic osteoarthropathy
- Idiopathic hypertrophic osteoarthropathy
- Touraine Solente Gole syndrome
What are the current treatments for Pachydermoperiostosis?
Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual. Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine. A vagotomy, a surgical procedure in which certain branches of the vagus nerve are cut, may in some instances improve joint pain and swelling. Skin-related symptoms may be treated with retinoids. Plastic surgery may be performed to improve facial appearance in some individuals. Surgery may also be performed to treat clubbing of fingers and/or toes.