This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages, the location of the pain may change, with attacks affecting the head and face. Triggers of these pain attacks include changes in temperature, emotional distress or eating spicy foods and drinking cold beverages. Paroxysmal extreme pain disorder is caused by mutations in the SCN9A gene. This condition is inherited in an autosomal dominant pattern. Treatment may include medications used to manage chronic neuropathic pain (anticonvulsants) such as the sodium channel blocker carbamazepine.
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