Congenital insensitivity to pain with anhidrosis: a case with preserved itch sensation to histamine and partial pain sensation

Abstract

Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive hereditary disorder that is characterized by having both sensory neuropathy and anhidrosis. A 6-year-old Japanese boy presented with recurrent fever, lack of sweating, occult bone fractures and impaired pain sensation without mental retardation. Genetic analyses revealed compound heterozygous mutations in the NTRK1 gene that encodes TrkA, which is a receptor for nerve growth factor. While there were no apparent changes in the patient’s dermal eccrine glands, the quantitative sudomotor axon reflex test with acetylcholine chloride revealed a complete loss ...

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