{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T22:09:54Z","timestamp":1765231794455},"reference-count":35,"publisher":"BMJ","issue":"227","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1968,2,1]]},"DOI":"10.1136\/adc.43.227.124","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T20:56:50Z","timestamp":1229979410000},"page":"124-130","source":"Crossref","is-referenced-by-count":37,"title":["Congenital sensory neuropathy with anhidrosis."],"prefix":"10.1136","volume":"43","author":[{"given":"F.","family":"Vassella","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. M.","family":"Emrich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Kraus-Ruppert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Aufdermaur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Tonz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","article-title":"On the other hand, intradermal application of adrenaline or noradrenaline in man causes local sweat production which cannot be inhibited by atropine, but can be by sympatholytics","volume-title":"A cholinergic and adrenergic double innervation of sweat glands has been proposed by Haimovici","author":"Dale; Feldberg","year":"1934","unstructured":"(Dale and Feldberg, 1934). On the other hand, intradermal application of adrenaline or noradrenaline in man causes local sweat production which cannot be inhibited by atropine, but can be by sympatholytics (Sonnenschein, 1949; Sonnenschein, Kobrin, and Grossman, 1949; Chalmers and Keele, 1951). A cholinergic and adrenergic double innervation of sweat glands has been proposed by Haimovici (1948, 1950). The discovery, however, that thermal sweating is suppressed by atropine but not by sympatholytics leads to the conclusion that sweat glands are innervated only cholinergically (Chalmers and Keele, 1951, 1952)."},{"key":"ref_2","article-title":"Further observations will be needed to decide if other signs of autonomic dysfunction are constantly present. Pinsky and DiGeorge","volume-title":"observed only a weak response of lacrimation to injection of cholinergic agents, despite good lacrimation when the patients were frustrated. Intravenous infusion of dilute noradrenaline resulted in an exaggerated hypertensive response in their Case 1, while fluothane anaesthesia in their Case 2 failed to produce bradycardia, as was usually observed by Johnstone","year":"1966","unstructured":"Further observations will be needed to decide if other signs of autonomic dysfunction are constantly present. Pinsky and DiGeorge (1966) observed only a weak response of lacrimation to injection of cholinergic agents, despite good lacrimation when the patients were frustrated. Intravenous infusion of dilute noradrenaline resulted in an exaggerated hypertensive response in their Case 1, while fluothane anaesthesia in their Case 2 failed to produce bradycardia, as was usually observed by Johnstone (1956). Furthermore, the ratio of HVA to VMA in the urine was higher than 2 5 in 2 of their 3 patients, as has been described in familial dysautonomia (Smith, Taylor, and Wortis, 1963). Apart from a high HVA: VMA ratio and repeated erythematous blotching of the face, no other signs of autonomic dysfunction were detected in our patient."},{"key":"ref_3","first-page":"381","article-title":"A case of congenital sensory neuropathy with anhidrosis is described in a boy of 11 months of consanguine parents. He showed the typical picture of self-mutilations (biting off of the tip of the tongue), recurrent episodes of unexplained fever, and delayed motor and mental development. There was generalized analgia and failure to sweat on","volume":"83","author":"Baxter, D.W.","year":"1960","unstructured":"A case of congenital sensory neuropathy with anhidrosis is described in a boy of 11 months of consanguine parents. He showed the typical picture of self-mutilations (biting off of the tip of the tongue), recurrent episodes of unexplained fever, and delayed motor and mental development. There was generalized analgia and failure to sweat on Baxter, D. W., and Olszewski, J. (1960). Congenital universal insensitivity to pain. Brain, 83, 381.","journal-title":"Brain; Congenital universal insensitivity to pain"},{"key":"ref_4","first-page":"664","article-title":"Chromosomal trisomy of group 13-15 in two cases of generalized congenital analgesia","volume":"1","author":"Begak, W.; Beqak, M.L.; Schmidt, B.J.","year":"1963","unstructured":"Begak, W., Beqak, M. L., and Schmidt, B. J. (1963). Chromosomal trisomy of group 13-15 in two cases of generalized congenital analgesia. Lancet, 1, 664.","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1113\/jphysiol.1951.sp004640","article-title":"Physiological significance of the sweat response to adrenaline in man","volume":"114","author":"Chalmers, T.M.; Keele, C.A.","year":"1951","unstructured":"Chalmers, T. M., and Keele, C. A. (1951). Physiological significance of the sweat response to adrenaline in man. J. Physiol. (Lond.), 114, 510.","journal-title":"J. Physiol. (Lond.)"},{"key":"ref_6","first-page":"43","article-title":"The nervous and chemical control of sweating","volume":"64","author":"and --(1952","unstructured":"-, and --(1952). The nervous and chemical control of sweating. Brit. J. Derm., 64, 43.","journal-title":"Brit. J. Derm"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1136\/bmj.1.4871.1128","article-title":"Indifference to pain in low-grade mental defectives","volume":"1","author":"Couston, T.A.","year":"1954","unstructured":"Couston, T. A. (1954). Indifference to pain in low-grade mental defectives. Brit. med. J., 1, 1128.","journal-title":"Brit. med. J"},{"key":"ref_8","article-title":"The chemical transmission of secretory impulses to the sweat glands of the cat","author":"Dale, H.H.; Feldberg, W.","year":"1934","unstructured":"Dale, H. H., and Feldberg, W. (1934). The chemical transmission of secretory impulses to the sweat glands of the cat. J. Physiol.","journal-title":"J. Physiol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1097\/00005053-193206000-00002","article-title":"A case of congenital general pure analgesia","volume":"75","author":"Dearborn, G.V.N.","year":"1932","unstructured":"Dearborn, G. V. N. (1932). A case of congenital general pure analgesia. J. nerv. ment. Dis., 75, 612.","journal-title":"J. nerv. ment. Dis"},{"key":"ref_10","article-title":"Hereditary sensory radicular neuropathy","author":"Denny-Brown, D.","year":"1951","unstructured":"Denny-Brown, D. (1951). Hereditary sensory radicular neuropathy."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1542\/peds.12.5.549","article-title":"Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas","volume":"12","author":"Di Sant'Agnese, P.A.; Darling, R.C.; Perera, G.A.; Shea, E.","year":"1953","unstructured":"Di Sant'Agnese, P. A., Darling, R. C., Perera, G. A., and Shea, E. (1953). Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas. Pediatrics, 12, 549.","journal-title":"Pediatrics"},{"key":"ref_12","series-title":"Proceedings of the IVth International Symposium on Cystic Fibrosis, Berne-Grindelwald; Basle","article-title":"Excretion of different substances in the sweat of children with cystic fibrosis and controls","author":"Emrich, H.M.; Stoll, E.; Friolet, B.; Colombo, J.P.; Richterich, R.; Rossi, E.","year":"1967","unstructured":"Emrich, H. M., Stoll, E., Friolet, B., Colombo, J. P., Richterich, R., and Rossi, E. (1967). Excretion of different substances in the sweat of children with cystic fibrosis and controls. In Proceedings of the IVth International Symposium on Cystic Fibrosis, Berne-Grindelwald, September 1966. Karger, Basle."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/BF00363308","article-title":"Ausscheidung verschiedener Stoffe im Schweiss in Abhangigkeit von der Schweissflussrate","volume":"290","author":"Emrich, H.M.; Stoll, E.; Friolet, B.; Colombo, J.P.; Richterich, R.; Rossi, E.; Ullrich, K.J.","year":"1966","unstructured":"Emrich, H. M., Stoll, E., Friolet, B., Colombo, J. P., Richterich, R., and Rossi, E., and Ullrich, K. J. (1966). Ausscheidung verschiedener Stoffe im Schweiss in Abhangigkeit von der Schweissflussrate. Pflugers Arch. ges. Physiol., 290, 298.","journal-title":"Pflugers Arch. ges. Physiol"},{"key":"ref_14","first-page":"70","article-title":"Hereditary insensitivity to pain","volume":"85","author":"Ervin, F.R.; Sternbach, R.A.","year":"1960","unstructured":"Ervin, F. R., and Sternbach, R. A. (1960). Hereditary insensitivity to pain. Trans. Amer. neurol. Ass., 85, 70.","journal-title":"Trans. Amer. neurol. Ass"},{"key":"ref_15","first-page":"79","article-title":"Kongenitale Analgie (kongenitale generalisierte Schmerzindifferenz)","volume":"12","author":"Fanconi, G.; Ferrazzini, F.","year":"1957","unstructured":"Fanconi, G., and Ferrazzini, F. (1957). Kongenitale Analgie (kongenitale generalisierte Schmerzindifferenz). Helv. paediat. Acta, 12, 79.","journal-title":"Helv. paediat. Acta"},{"key":"ref_16","article-title":"Pediatric Neurology","author":"Farmer, T.W.","year":"1964","unstructured":"Farmer, T. W. (1964). Pediatric Neurology. Harper & Row, New York."},{"key":"ref_17","article-title":"Zur Morphologie der Schmerzrezeptoren. In Schmerzanalyze als Wegweiser zur Diagnose","author":"Fleischhauer, K.","year":"1966","unstructured":"Fleischhauer, K. (1966). Zur Morphologie der Schmerzrezeptoren. In Schmerzanalyze als Wegweiser zur Diagnose, ed. R. Janzen. G. Thieme, Stuttgart."},{"key":"ref_18","first-page":"124","article-title":"Congenital generalized indifference to pain (congenital analgia)","volume":"100","author":"Gillespie, J.B.; Perucca, L.G.","year":"1960","unstructured":"Gillespie, J. B., and Perucca, L. G. (1960). Congenital generalized indifference to pain (congenital analgia). Amer. J. Dis. Child., 100, 124.","journal-title":"Amer. J. Dis. Child"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"40","DOI":"10.3181\/00379727-68-16384P","article-title":"Evidence for an adrenergic component in the nervous mechanism of sweating in man","volume":"68","author":"Haimovici, H.","year":"1948","unstructured":"Haimovici, H. (1948). Evidence for an adrenergic component in the nervous mechanism of sweating in man. Proc. Soc. exp. Biol. (N. Y.), 68, 40.","journal-title":"Proc. Soc. exp. Biol. (N. Y.)"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1152\/jappl.1950.2.9.512","article-title":"Evidence for adrenergic sweating in man","volume":"2","author":"Haimovici, H.","year":"1950","unstructured":"Haimovici, H. (1950). Evidence for adrenergic sweating in man. J. appl. Physiol., 2, 512.","journal-title":"J. appl. Physiol"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1093\/bja\/28.9.392","article-title":"The human cardiovascular response to fluothane anaesthesia","volume":"28","author":"Johnstone, M.","year":"1956","unstructured":"Johnstone, M. (1956). The human cardiovascular response to fluothane anaesthesia. Brit. J. Anaesth., 28, 392.","journal-title":"Brit. J. Anaesth"},{"key":"ref_22","article-title":"The mechanism of human sweat secretion. Paper at XXIIIrd International Congress ofPhysiological Sciences","author":"Kuno, Y.","year":"1965","unstructured":"Kuno, Y. (1965). The mechanism of human sweat secretion. Paper at XXIIIrd International Congress ofPhysiological Sciences, 1 to 9 September, 1965, Tokyo."},{"key":"ref_23","first-page":"215","article-title":"Die Blutgefasse der menschlichen Haut und ihr Verhalten gegen Reize","author":"Lewis, T.","year":"1928","unstructured":"Lewis, T. (1928). Die Blutgefasse der menschlichen Haut und ihr Verhalten gegen Reize, pp. 215-224."},{"key":"ref_24","first-page":"267","article-title":"(Transl. of English ed., 1927, The Blood Vessels of the Human Skin and their Responses","volume":"22","author":"Karger, S.; Berlin","year":"1959","unstructured":"S. Karger, Berlin. (Transl. of English ed., 1927, The Blood Vessels of the Human Skin and their Responses. Shaw, London.) Ogden, T. E., Robert, F., and Carmichael, E. A. (1959). Some sensory syndromes in children: indifference to pain and sensory neuropathy. J. Neurol. Neurosurg. Psychiat., 22, 267.","journal-title":"J. Neurol. Neurosurg. Psychiat; Some sensory syndromes in children: indifference to pain and sensory neuropathy"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0022-3476(66)80417-1","article-title":"Congenital familial sensory neuropathy with anhidrosis","volume":"68","author":"Pinsky, L.; DiGeorge, A.M.","year":"1966","unstructured":"Pinsky, L., and DiGeorge, A. M. (1966). Congenital familial sensory neuropathy with anhidrosis. J. Pediat., 68, 1.","journal-title":"J. Pediat"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1242\/jeb.32.4.822","article-title":"Electrometric titration of chloride in small volumes","volume":"32","author":"Ramsay, J.A.; Brown, R.H.J.; Croghan, P.C.","year":"1955","unstructured":"Ramsay, J. A., Brown, R. H. J., and Croghan, P. C. (1955). Electrometric titration of chloride in small volumes. J. exp. Biol., 32, 822.","journal-title":"J. exp. Biol"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0065-3101(22)00461-3","article-title":"Familial dysautonomia","volume":"9","author":"Riley, C.M.","year":"1957","unstructured":"Riley, C. M. (1957). Familial dysautonomia. Advanc. Pediat., 9, 157.","journal-title":"Advanc. Pediat"},{"key":"ref_28","first-page":"285","article-title":"The sweat test in cystic fibrosis. A comparison of overnight sweat collection versus the pilocarpine iontophoresis method","volume":"69","author":"Shwachman, H.; Mahmoodian, A.","year":"1966","unstructured":"Shwachman, H., and Mahmoodian, A. (1966). The sweat test in cystic fibrosis. A comparison of overnight sweat collection versus the pilocarpine iontophoresis method. J. Pediat., 69, 285.","journal-title":"J. Pediat"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1056\/NEJM196303282681304","article-title":"Abnormal catecholamine-metabolism in familial dysautonomia","volume":"268","author":"Smith, A.A.; Taylor, T.; Wortis, S.B.","year":"1963","unstructured":"Smith, A. A., Taylor, T., and Wortis, S. B. (1963). Abnormal catecholamine-metabolism in familial dysautonomia. New Engi. J. Med., 268, 705.","journal-title":"New Engi. J. Med"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"654","DOI":"10.3181\/00379727-71-17287","article-title":"Local sweating in man induced by intradermal epinephrine","volume":"71","author":"Sonnenschein, R.R.","year":"1949","unstructured":"Sonnenschein, R. R. (1949). Local sweating in man induced by intradermal epinephrine. Proc. Soc. exp. Biol. (N. Y.), 71, 654.","journal-title":"Proc. Soc. exp. Biol. (N. Y.)"},{"key":"ref_31","first-page":"591","article-title":"Further observadons on local action of epinephrine on human sweat glands","volume":"159","author":"Sonnenschein, R.R.; Kobrin, H.; Grossman, M.I.","year":"1949","unstructured":"Sonnenschein, R. R., Kobrin, H., and Grossman, M. I. (1949). Further observadons on local action of epinephrine on human sweat glands. Amer. J. Physiol., 159, 591.","journal-title":"Amer. J. Physiol"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1001\/archneur.1963.00460030083008","article-title":"Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings","volume":"8","author":"Swanson, A.G.","year":"1963","unstructured":"Swanson, A. G. (1963). Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings. Arch. Neurol. (Chic.), 8, 299.","journal-title":"Arch. Neurol. (Chic.)"},{"key":"ref_33","first-page":"99","article-title":"Absence of Lissauer's tract and small dorsal root axons in familial, congenital, universal insensitivity to pain","volume":"88","author":"Swanson, A.G.; Buchan, G.C.; Alvord, Jr, E.C.","year":"1963","unstructured":"Swanson, A. G., Buchan, G. C., and Alvord, E. C., Jr. (1963). Absence of Lissauer's tract and small dorsal root axons in familial, congenital, universal insensitivity to pain. Trans. Amer. neurol. Ass., 88, 99.","journal-title":"Trans. Amer. neurol. Ass"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1001\/archderm.1962.01590030023004","article-title":"Congenital absence of pain. Report of a case and experimental studies","volume":"85","author":"Winkelmann, R.K.; Lambert, E.H.; Hayles, A.B.","year":"1962","unstructured":"Winkelmann, R. K., Lambert, E. H., and Hayles, A. B. (1962). Congenital absence of pain. Report of a case and experimental studies. Arch. Derm., 85, 325.","journal-title":"Arch. Derm"},{"key":"ref_35","article-title":"The following articles will appear in future issues of this Journal: Sibs with Mental and Physical Retardation and Trichorrhexis Nodosa with Abnormal Amino Acid Composition of the Hair. By","author":"Pollitt, R.J.","unstructured":"The following articles will appear in future issues of this Journal: Sibs with Mental and Physical Retardation and Trichorrhexis Nodosa with Abnormal Amino Acid Composition of the Hair. By R. J. Pollitt, F. A. Jenner, and M. Davies."}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.43.227.124","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T03:36:47Z","timestamp":1684813007000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.43.227.124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1968,2,1]]},"references-count":35,"journal-issue":{"issue":"227","published-print":{"date-parts":[[1968,2,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.43.227.124","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1968,2,1]]}}}