1988
DOI: 10.1001/archderm.124.4.564
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Congenital sensory neuropathy with anhidrosis

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Cited by 7 publications
(7 citation statements)
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“…6 In addition, there are several reports of children with CIPA who bit off a portion of their tongue or pulled out their own teeth. [15][16][17] Health care maintenance issues are important for children with CIPA: Rosemberg et al 18 reported that an estimated 20% die from hyperpyrexia in the first 3 years of life, while Shorer et al 12 report sepsis leading to death in 23% of their CIPA patients. However, other groups have not reported similar mortality rates.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…6 In addition, there are several reports of children with CIPA who bit off a portion of their tongue or pulled out their own teeth. [15][16][17] Health care maintenance issues are important for children with CIPA: Rosemberg et al 18 reported that an estimated 20% die from hyperpyrexia in the first 3 years of life, while Shorer et al 12 report sepsis leading to death in 23% of their CIPA patients. However, other groups have not reported similar mortality rates.…”
Section: Discussionmentioning
confidence: 99%
“…Molecular analysis of potential CIPA mutations is cumbersome because of the high number of exons (17), large genomic area spanned by NTRK1 (Ͼ23 kb), and numerous polymorphisms. A combination of 1) routine EMG demonstrating normal nerve conduction studies (to exclude other peripheral neuropathies), together with 2) skin biopsy demonstrating absence of epidermal and sweat gland innervation; provide a sensitive, reliable and rapid means for confirming a suspected diagnosis of CIPA.…”
Section: Tooth Loss and Hyperkeratosis: A Novel Mutation In Ntrk1mentioning
confidence: 99%
“…Neuropathologic fmdings in- absence of unmyelinated fibers and an important reduction of myelinated fibers of small caliber in peripheral nerves. The few cases studied were published mostly under the headings of neurology and neuropediatrics (4)(5)(6)(7)(8)(9)(10)(11)(12)(13).…”
Section: Discussionmentioning
confidence: 99%
“…The most striking initial findings in CSNA are severe recurrent, occasionally fatal episodes of hyperpyrexia (16) that result from anhidrosis or alterations in central regulation of body temperature (4), and accidental or self-induced cutaneous trauma. It is believed that these are due to anesthesia to both pain and heat, as well as mental retardation (6,10,11,13).…”
Section: Discussionmentioning
confidence: 99%
“…The majority of research which has been undertaken with people with ID has addressed issues of insensitivity or apparent indifference to pain (e.g. Mitaka et al 1985;Ishii et al 1988;Biersdorff 1994). While pain insensitivity and indifference may be more prevalent among people with ID than in the general population, the majority of people with ID are likely to show normal responses to pain.…”
Section: Introductionmentioning
confidence: 99%