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Disease relevance of Hypohidrosis


High impact information on Hypohidrosis

  • Mice lacking the gene for TrkA, a receptor tyrosine kinase for NGF, share dramatic phenotypic features of CIPA, including loss of responses to painful stimuli, although anhidrosis is not apparent in these animals [1].
  • Tabby (Ta), a murine X-linked mutant gene, produces a syndrome of ectodermal dysplasia including anhidrosis (absence of sweat glands) [6].
  • Decreased CSF levels of substance P in patients with congenital sensory neuropathy with anhidrosis [7].
  • In the present study, I examined whether anhidrosis, a cardinal feature of CST, is present in the putative mouse sex-linked model, Tabby [8].
  • Intradermal acetylcholine produced localized sweating in areas of thermoregulatory anhidrosis five months after the onset of symptoms but failed to do so at two years [9].

Chemical compound and disease context of Hypohidrosis


Biological context of Hypohidrosis

  • The slowly progressive, symmetrical HSAN type I manifests between the second and fourth decade with ulcers or mutilations of the lower extremities, low normal sensory and motor nerve conduction velocities, but abnormal warm, cold and heat pain perception and distal anhidrosis [15].
  • Mutations of the NGF high-affinity receptor tyrosine kinase A (Trk A) have been found in congenital insensitivity to pain and anhidrosis; these are likely to be partial loss-of-function mutations, as axon-reflex vasodilatation and sweating can be elicited albeit reduced, suggesting rhNGF could restore nociception in some patients [16].
  • We report a patient who demonstrated the classical triad of elevated body temperature, neurological disturbances, and anhidrosis [17].

Anatomical context of Hypohidrosis


Gene context of Hypohidrosis

  • HSAN IV is characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, self-mutilating behavior and often mental retardation [19].
  • METHODS: We describe three patients with epilepsy who were treated with TPM and developed hypohidrosis, heat and exercise intolerance, as well as fever [20].
  • Hypohidrosis in the affected areas, heat intolerance, and febrile convulsions were noted in infancy and childhood [21].
  • We report on a 13-year-old girl with complete Kearns-Sayre syndrome (KSS) and unusual manifestations of anhidrosis and de Toni-Fanconi-Debré syndrome which preceded by several years the onset of KSS triad [22].
  • Although patients with GH deficiency and HS are characterized by anhidrosis/hypohidrosis, there does not appear to be dysfunction of GH response to heat stress-associated HS [23].


  1. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M.A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Nat. Genet. (1996) [Pubmed]
  2. Ross syndrome plus: beyond horner, Holmes-Adie, and harlequin. Shin, R.K., Galetta, S.L., Ting, T.Y., Armstrong, K., Bird, S.J. Neurology (2000) [Pubmed]
  3. Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12. Kølvraa, S., Kruse, T.A., Jensen, P.K., Linde, K.H., Vestergaard, S.R., Bolund, L. Hum. Genet. (1986) [Pubmed]
  4. Autosomal dominant congenital Horner's syndrome in a Dutch family. Hageman, G., Ippel, P.F., te Nijenhuis, F.C. J. Neurol. Neurosurg. Psychiatr. (1992) [Pubmed]
  5. A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia. Hertz, J.M., Nørgaard Hansen, K., Juncker, I., Kjeldsen, M., Gregersen, N. Clin. Genet. (1998) [Pubmed]
  6. Induction of sweat glands by epidermal growth factor in murine X-linked anhidrotic ectodermal dysplasia. Blecher, S.R., Kapalanga, J., Lalonde, D. Nature (1990) [Pubmed]
  7. Decreased CSF levels of substance P in patients with congenital sensory neuropathy with anhidrosis. Nagamitsu, S., Matsuishi, T., Ohnishi, A., Kato, H. Neurology (1997) [Pubmed]
  8. Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Blecher, S.R. J. Invest. Dermatol. (1986) [Pubmed]
  9. Progressive isolated segmental anhidrosis. Faden, A.I., Chan, P., Mendoza, E. Arch. Neurol. (1982) [Pubmed]
  10. Congenital Horner's syndrome with unilateral facial flushing. Saito, H. J. Neurol. Neurosurg. Psychiatr. (1990) [Pubmed]
  11. Congenital Horner's syndrome. Weinstein, J.M., Zweifel, T.J., Thompson, H.S. Arch. Ophthalmol. (1980) [Pubmed]
  12. Safety of zonisamide therapy: prospective follow-up survey. Ohtahara, S., Yamatogi, Y. Seizure : the journal of the British Epilepsy Association. (2004) [Pubmed]
  13. Clinical and physiological characteristics of autonomic failure with Parkinson's disease. Niimi, Y., Ieda, T., Hirayama, M., Koike, Y., Sobue, G., Hasegawa, Y., Takahashi, A. Clin. Auton. Res. (1999) [Pubmed]
  14. Congenital insensitivity to pain with anhidrosis. A case report. Herdem, M., Polat, S., Ozbarlas, S., Onaç, E. International orthopaedics. (1998) [Pubmed]
  15. Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Hilz, M.J. Clin. Auton. Res. (2002) [Pubmed]
  16. Neurotrophic factors and their receptors in human sensory neuropathies. Anand, P. Prog. Brain Res. (2004) [Pubmed]
  17. Extremely elevated body temperature: case report and review of classical heat stroke. de Galan, B.E., Hoekstra, J.B. The Netherlands journal of medicine. (1995) [Pubmed]
  18. Fabry disease: enzyme replacement therapy. Bongiorno, M.R., Pistone, G., Aricò, M. Journal of the European Academy of Dermatology and Venereology : JEADV. (2003) [Pubmed]
  19. Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. Verpoorten, N., Claeys, K.G., Deprez, L., Jacobs, A., Van Gerwen, V., Lagae, L., Arts, W.F., De Meirleir, L., Keymolen, K., Ceuterick-de Groote, C., De Jonghe, P., Timmerman, V., Nelis, E. Neuromuscul. Disord. (2006) [Pubmed]
  20. Hypohidrosis related to the administration of topiramate to children. Arcas, J., Ferrer, T., Roche, M.C., Martínez-Bermejo, A., López-Martín, V. Epilepsia (2001) [Pubmed]
  21. Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: a "new" syndrome? Sequeiros, J., Sack, G.H. Am. J. Med. Genet. (1985) [Pubmed]
  22. Renal and skin involvement in a patient with complete Kearns-Sayre syndrome. Mori, K., Narahara, K., Ninomiya, S., Goto, Y., Nonaka, I. Am. J. Med. Genet. (1991) [Pubmed]
  23. Thermal regulatory dysfunction of growth hormone in classical heat stroke. Alzeer, A., al Arifi, A., el-Hazmi, M., Warsy, A.S., Nylen, E.S. Eur. J. Endocrinol. (1996) [Pubmed]
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