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Abstract
The congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor
Highlights
Congenital insensitivity to pain and anhidrosis (CIPA), known as hereditary sensory and autonomic neuropathy type IV, is an extremely rare syndrome[1, 2]
The first step in the diagnosis of CIPA syndrome is consideration of the clinical presentation based on the combination of three basic signs: insensitivity to pain, anhidrosis, and mental retardation[2,3]
NTRK1 mutations imply an alteration in TrkA, an NGF receptor
Summary
Congenital insensitivity to pain and anhidrosis (CIPA), known as hereditary sensory and autonomic neuropathy type IV, is an extremely rare syndrome[1, 2]. Other possible signs may be associated: impaired temperature sensation[5], mandibular osteolysis[6], facial alterations[7] growth disturbances[8]; heterotopic ossification9,repetitive soft tissue and osseous infections of hematogenous origin10,self-mutilating behavior[8]. This condition occurs with an incidence of 1 in 125 million newborns[6].All clinical manifestation shown as Table 1. NGF is involved in surveillance of nociceptive sensory neurons and sympathetic autonomic neurons and collaborates in the activation and homeostasis of other cellular types so that a NTRK1 mutation will cause deficient development of[15, 16] the afferent somatic sensory
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