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

British Journal of Dermatology

Volumn 166, Issue 4, 2012, Pages 888-891

  Tanaka, T ^a   Satoh, T ^a   Tanaka, A ^b   Yokozeki, H ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b KAMEDA MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; CAPSAICIN; HISTAMINE; HISTAMINE H1 RECEPTOR; PROTEIN TYROSINE KINASE A;

ARTICLE; AUTONOMIC NEUROPATHY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS; DERMIS; FEVER; FRACTURE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; NOCICEPTION; PRESCHOOL CHILD; PRICK TEST; PRIORITY JOURNAL; RECURRENT DISEASE; SENSORY NEUROPATHY; SKIN BIOPSY; SWEAT GLAND;

CHILD; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HISTAMINE; HISTAMINE AGONISTS; HUMANS; MALE; MUTATION; PAIN PERCEPTION; PRURITUS; RARE DISEASES; RECEPTOR, TRKA;

EID: 84862782800     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10706.x     Document Type: Article

References (18)

1. Swanson AG,. Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings. Arch Neurol 1963; 8: 299-306.
2. Wada M,. Sudorific action of adrenalin on the human sweat glands and determination of their excitability. Science 1950; 111: 376-7.
3. Indo Y, Tsuruta M, Hayashida Y, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996; 13: 485-8.
4. Indo Y,. Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis. Expert Rev Neurother 2010; 10: 1707-24.
5. Davis AA, Temple S,. A self-renewing multipotential stem cell in embryonic rat cerebral cortex. Nature 1994; 372: 263-6.
6. Levi-Montalcini R,. The nerve growth factor: thirty-five years later. EMBO J 1987; 6: 1145-54.
7. Snider WD,. Functions of the neurotrophins during nervous system development: what the knockouts are teaching us. Cell 1994; 77: 627-38.
8. Yamamoto M, Sobue G, Yamamoto K, et al. Expression of mRNAs for neurotrophic factors (NGF, BDNF, NT-3, and GDNF) and their receptors (p75NGFR, trkA, trkB, and trkC) in the adult human peripheral nervous system and nonneural tissues. Neurochem Res 1996; 21: 929-38.
9. Langer J, Goebel HH, Veit S,. Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. Acta Neuropathol 1981; 54: 199-202.
10. Ohto T, Iwasaki N, Fujiwara J, et al. The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene. Neuropediatrics 2004; 35: 274-8.
11. Nolano M, Crisci C, Santoro L, et al. Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 2000; 111: 1596-601.
12. Shorer Z, Moses SW, Hershkovitz E, et al. Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. Pediatr Neurol 2001; 25: 397-400.
13. Caterina MJ, Schumacher MA, Tominaga M, et al. The capsaicin receptor: a heat-activated ion channel in the pain pathway. Nature 1997; 389: 816-24.
14. Imamachi N, Park GH, Lee H, et al. TRPV1-expressing primary afferents generate behavioral responses to pruritogens via multiple mechanisms. Proc Natl Acad Sci USA 2009; 106: 11330-5.
15. Liu T, Xu ZZ, Park CK, et al. Toll-like receptor 7 mediates pruritus. Nat Neurosci 2010; 13: 1460-2.
16. Lee KF, Li E, Huber LJ, et al. Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral sensory nervous system. Cell 1992; 69: 737-49.
17. Albers KM, Woodbury CJ, Ritter AM, et al. Glial cell-line-derived neurotrophic factor expression in skin alters the mechanical sensitivity of cutaneous nociceptors. J Neurosci 2006; 26: 2981-90.
18. Malin SA, Molliver DC, Koerber HR, et al. Glial cell line-derived neurotrophic factor family members sensitize nociceptors in vitro and produce thermal hyperalgesia in vivo. J Neurosci 2006; 26: 8588-99.