Congenital insensitivity to pain with anhidrosis

László Sztriha, Gilles G. Lestringant, Jozef Hertecant, Philippe M. Frossard, Isabelle Masouyé

Research output: Contribution to journalArticle

28 Citations (Scopus)


Congenital insensitivity to pain with anhidrosis is an autosomal-recessive disorder resulting from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for pain and temperature sensation. There is also a neuronal loss in the sympathetic ganglia. Lack of sweating, hyperthermia, and infections of bones are main features of the disorder; however, contradictory results have been published regarding eccrine sweat gland innervation. A 5-year-old male patient with typical clinical manifestations of congenital insensitivity to pain with anhidrosis is presented. Immunohistochemistry with antibodies against S100 protein and neuron-specific enolase failed to reveal nerve fibers in the vicinity of the eccrine sweat glands. The roles of the nerve growth factor and tyrosine kinase receptor gene mutations in the pathogenesis of the disease are also discussed.

Original languageEnglish
Pages (from-to)63-66
Number of pages4
JournalPediatric Neurology
Issue number1
Publication statusPublished - Aug 20 2001

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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  • Cite this

    Sztriha, L., Lestringant, G. G., Hertecant, J., Frossard, P. M., & Masouyé, I. (2001). Congenital insensitivity to pain with anhidrosis. Pediatric Neurology, 25(1), 63-66.