Elizabeth Y. Ang

Lessons from arthritis and osteomyelitis mimicking juvenile idiopathic arthritis: painlessness as an important clue to NTRK1 mutations

Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare disorder that is caused by autosomal recessive mutations in the Neurotrophic Receptor Tyrosine Kinase (NTRK1) gene. The disease typically presents with a triad of insensitivity to pain and temperature, a...