Congenital Insensitivity to Pain with Anhydrosis

Swanson, August G.

doi:10.1001/archneur.1963.00460030083008

Cited by 198 publications

(131 citation statements)

References 7 publications

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“…Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800), a rare autosomal recessive disorder, is characterized by insensitivity to pain, anhidrosis, recurrent hyperpyrexia, mild mental retardation, and self-mutilating behavior [1, 2]. It is classified as hereditary sensory and autonomic neuropathy type IV [2].…”

Section: Introductionmentioning

confidence: 99%

Congenital Insensitivity to Pain with Anhidrosis in Taiwan: A Morphometric and Genetic Study

Guo

Liao²,

Soong³

et al. 2004

Eur Neurol

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Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by insensitivity to pain, anhidrosis, recurrent hyperpyrexia, mild mental retardation, and self-mutilating behavior. We report 2 brothers, aged 20 and 18 years, who suffered from phenotypes of CIPA. Both brothers had a branch site mutation in intron 7 (IVS7-33 T→A) of the neurotrophic tyrosine kinase receptor type 1 gene. The electrophysiological studies showed no significant abnormal findings in sensory evoked potentials, motor evoked potentials to transcranial magnetic stimulation, or heart rate variations; sympathetic skin responses were absent. Morphometric study of their sural nerve histopathology revealed normal myelinated fiber density, 8,082 fibers/mm² and 5,637 fibers/mm²(normal 6,141 ± 421); decreased unmyelinated fiber density, 2,537 fibers/mm² and 2,211 fibers/mm² (normal 28,578 ± 8,669); increased axon size, 4.41 ± 1.59 µm and 5.33 ± 1.48 µm (normal 3.73 ± 1.45), and increased axon diameter (A)/myelin thickness (M) ratio (A/M), 3.47 ± 1.42 and 2.70 ± 1.07 (normal 2.49 ± 0.93). Scatterplot analysis of the G ratio (axon diameter:fiber diameter) did not show consistent results in the relationship between axon size and myelin thickness. In conclusion, the neuropathy of our CIPA patients included a marked reduction of small myelinated and unmyelinated fibers and a relatively increased axon size. This is the first CIPA family encountered in Taiwan.

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Section: Introductionmentioning

confidence: 99%

Congenital Insensitivity to Pain with Anhidrosis in Taiwan: A Morphometric and Genetic Study

Guo

Liao²,

Soong³

et al. 2004

Eur Neurol

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“…1 CIPA is characterized by recurrent episodic fevers or heat intolerance, anhidrosis (inability to sweat), absence of normal responses to painful stimuli, self-mutilatory behavior, and mental retardation. CIPA is caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene (NTRK1, previously known as TrkA), which is the receptor for nerve growth factor (NGF).…”

mentioning

confidence: 99%

An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis

Bonkowsky¹,

Johnson

Carey³

et al. 2003

Pediatrics

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ABSTRACT. Patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple diagnostic tests, and the paucity of cases reported in North America. We describe a 1-year-old infant who had tooth loss and palmar hyperkeratosis as the primary manifestations of CIPA. He was initially evaluated by a pediatric dentist and epidermal dysplasia syndromes were considered, but insensitivity to pain was suspected after a skeletal survey revealed an unrecognized skull fracture. Nerve conduction studies were normal, as was his response to subdermal histamine injection. Sequence analysis of his NTRK1 gene revealed 2 mutations: 1 mutation is novel, while the other has been described previously in a patient of northern European descent. An antibody directed against NTRK1 revealed persistent expression in keratinocytes, consistent with the mutations in this patient. Skin biopsy specimens revealed a lack of epidermal and sweat gland innervation. Immunohistochemistry of skin biopsy specimens, together with routine nerve conduction studies, can provide quick and reliable confirmation if CIPA is clinically suspected. Pediatrics 2003;112:e237-e241. URL: http://www.pediatrics.org/cgi/content/full/112/3/e237; CIPA, NTRK1, tooth loss, hyperkeratosis, insensitivity to pain.

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“…CIPA was first described by Dearborn in 1932 and systematically published by Swenson in 1963 [5]. This extremely rare autosomal recessively inherited disease is described as hereditary sensory autonomic neuropathy type 4.…”

Section: Discussionmentioning

confidence: 99%

Congenital insensitivity to pain syndrome accompanied by neglected orthopedic traumas and complications

et al. 2017

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Pain is a protective mechanism. Congenital insensitivity to pain syndrome is a very rare disease in which there is no ability to feel physical pain. It has been reported that it occurs with an incidence of 1 in 125 million newborn. Patients with congenital insensitivity to pain may have various orthopedic complications such as recurrent fractures, osteomyelitis and neuropathic joints. The most frequently affected body parts are lower extremities. Besides, curvature of spine can be seen. Injuries in epiphyseal points may cause incompatibility of extremity. Charcot joints may develop, which can lead to neuropathic arthropathy as a result of insensitivity to pain. Here, we present a patient with traumatic fracture-dislocation on left hip that neglected the treatment, had a bilateral femur fracture and then had septic arthritis of knee.

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Congenital Insensitivity to Pain with Anhydrosis

Cited by 198 publications

References 7 publications

Congenital Insensitivity to Pain with Anhidrosis in Taiwan: A Morphometric and Genetic Study

Congenital Insensitivity to Pain with Anhidrosis in Taiwan: A Morphometric and Genetic Study

An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis

Congenital insensitivity to pain syndrome accompanied by neglected orthopedic traumas and complications

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