Congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis, commonly abbreviated CIPA, is an extremely rare inherited disorder, classified as a type of hereditary sensory and autonomic neuropathy, in which affected individuals are unable to feel physical pain and cannot sweat normally. The condition results from mutations in the NTRK1 gene, which impair the development of the nerve fibers responsible for transmitting pain and temperature sensations and for regulating sweat glands. Because affected children cannot perceive pain, they are at serious risk of repeated unnoticed injuries, including bone fractures, joint damage, bite wounds to the tongue and lips, and corneal damage from unblinking exposure, all of which can go untreated and lead to severe complications. The inability to sweat, called anhidrosis, also leaves individuals prone to dangerously high fevers and heatstroke because the body cannot regulate its temperature through perspiration. Management focuses on constant vigilance by caregivers to identify injuries the patient cannot feel, careful temperature regulation, regular medical and dental checkups, and protective measures to reduce the risk of self-injury, since there is currently no cure for the underlying genetic defect.