Congenital Insensitivity to Pain with Anhidrosis: A Case with Self-Inflicted Oral Ulcerations. Academic Article uri icon

abstract

  • Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive condition. CIPA is caused by mutations in the NTRK1 gene, leading to the inability to feel pain and decreased or absent sweating (anhidrosis). The signs and symptoms of CIPA may not be easily diagnosed at birth, but repeated severe injuries or unintentional self-injurious behavior during infancy may prompt further investigation leading to a CIPA diagnosis. We present the case of an 18-month old child who was diagnosed with CIPA, after repeated visits to a hopsital's emergency department for serious tongue and finger biting, which prompted further investigation.

publication date

  • May 2019