Congenital insensitivity to pain with anhidrosis

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

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

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
Volume25
Issue number1
DOIs
Publication statusPublished - 2001

Fingerprint

Hereditary Sensory and Autonomic Neuropathies
Eccrine Glands
Sweat Glands
Sympathetic Ganglia
Sweating
S100 Proteins
Phosphopyruvate Hydratase
Neural Crest
Receptor Protein-Tyrosine Kinases
Nerve Growth Factor
Nerve Fibers
Fever
Immunohistochemistry
Bone and Bones
Pain
Mutation
Temperature
Antibodies
Infection
Genes

ASJC Scopus subject areas

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

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. https://doi.org/10.1016/S0887-8994(01)00278-8

Congenital insensitivity to pain with anhidrosis. / Sztriha, L.; Lestringant, Gilles G.; Hertecant, Jozef; Frossard, Philippe M.; Masouyé, Isabelle.

In: Pediatric Neurology, Vol. 25, No. 1, 2001, p. 63-66.

Research output: Contribution to journalArticle

Sztriha, L, Lestringant, GG, Hertecant, J, Frossard, PM & Masouyé, I 2001, 'Congenital insensitivity to pain with anhidrosis', Pediatric Neurology, vol. 25, no. 1, pp. 63-66. https://doi.org/10.1016/S0887-8994(01)00278-8
Sztriha, L. ; Lestringant, Gilles G. ; Hertecant, Jozef ; Frossard, Philippe M. ; Masouyé, Isabelle. / Congenital insensitivity to pain with anhidrosis. In: Pediatric Neurology. 2001 ; Vol. 25, No. 1. pp. 63-66.
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