Congenital insensitivity to pain
What are the main symptoms of congenital insensitivity to pain?
Congenital insensitivity to pain is characterized by the inability to perceive physical pain. People with this condition can feel the difference between sharp and dull and hot and cold but cannot sense for example that a hot beverage is burning their tongue. This condition which is present from birth can lead to an accumulation of wounds, bruises, broken bones and other health issues that may go undetected over time and can lead to a reduction in life expectancy. Young children with congenital insensitivity to pain may have mouth or finger wounds due to self-biting and may also experience multiple burn-related injuries. Many people with this condition also have a complete loss of the sense of smell (anosmia). In cases of congenital insensitivity to pain caused by mutations in the PRDM12 gene the patients have a normal sense of smell, predisposition to infections, and a greater incidence of corneal abrasions due to a lack of tear production. Visit GeneReviews for a table that shows some of the symptoms a person with a gene mutation in these or other genes that cause congenital insensitivity to pain may have.
Schon et. al, GeneReviews Congenital Insensitivity to Pain Overview, February 8, 2018 https://www.ncbi.nlm.nih.gov/books/NBK481553/