Chromosome location: 1q23.1
Gene affected: NTRK1 (receptor tyrosine kinase for nerve growth factor NGF)
Inheritance: autosomal recessive
Key clinical features:
(1) insensitivity to pain
(2) defective temperature sensation
(3) anhidrosis with fever and heat intolerance
Variable findings:
(1) self-mutilating behavior
(2) immunodeficiency with reduced immunoglobulins and recurrent infections
(3) mental retardation
Affected patients fail a number of pharmacologic stimulation tests:
(1) lacrimation following subcutaneous injection of neostigmine
(2) unresponsiveness to mehacholine
(3) absence of a flare response to histamine
(4) absence of sweating following any normal stimulus
A skin biopsy shows histologically normal sweat glands.
Naloxone therapy can be effective in these patients (Yanagida, 1978)
