Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)

Rosemberg, Sérgio; Marie, Suely Kazue Nagahashi; Kliemann, Suzana

doi:10.1016/0887-8994(94)90091-4

Cited by 170 publications

(122 citation statements)

References 12 publications

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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%

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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Section: Discussionmentioning

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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“…Las convulsiones febriles se presentan con frecuencia y se describe que el 20% de los casos de muerte en los tres primeros años de vida son producidos por hiperpirexia. 2,3,7,10 La educación continua a la madre y sus familiares en el control de la temperatura ha sido vital para el manejo de nuestra paciente. Los episodios febriles con temperatura mayor de 38,5 ºC se han podido controlar con medios físicos y la administración de paracetamol en dosis terapéutica de 15 mg/kg cada 6 horas.…”

Section: Discussionunclassified

“…[2][3][4] L a s p a t o l o g í a s r e l a c i o n a d a s c o n l a insensibilidad congénita al dolor fueron descritas por Dearborn en 1931. Dyck (1984) clasificó las HSAN en cinco tipos 4 (Tabla 1).…”

Section: Introductionunclassified

Insensibilidad congénita al dolor con anhidrosis. Diagnóstico clínico, evolución y complicaciones. Reporte de un caso

2014

Arch Argent Pediat

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Presentación de casos clínicos RESUMENLa insensibilidad congénita al dolor con anhidrosis es una enfermedad autosómica recesiva infrecuente, que se produce por mutaciones en el gen NTRK1 (neurotrophic tyrosine receptor kinase 1), localizado en el cromosoma 1q21-22, que codifica el dominio tirosinasa del receptor de alta afinidad del factor de crecimiento nervioso. Se caracteriza por anhidrosis, insensibilidad a los estímulos dolorosos y retraso mental. Dada su baja prevalencia y los pocos casos reportados, es importante conocer sus principales características para considerarlo entre los diagnósticos diferenciales en la práctica pediátrica. Realizamos la descripción del diagnóstico clínico, complicaciones, secuelas y tratamiento sintomático administrado en una niña de 3 años y 6 meses en el Hospital Asdrúbal de la Torre, Cotacachi, Ecuador. Palabras clave: congénito, insensibilidad, dolor, anhidrosis. ABSTRACTThe congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disease caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence and the few reported cases, it is important to know its main features to be considered in the differential diagnosis in pediatric practice. We describe the clinical diagnosis, complications, sequelae and symptomatic treatment administered to a 3 years and 6 months old girl in the Hospital Asdrubal de la Torre, Cotacachi, Ecuador.

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“…Pain insensitivity often leads to self-mutilating behaviors such as tongue and hand biting (Vardy et al, 1979;Rosemberg et al, 1994). Abnormality in neutrophil functions and B lymphoblastoid cell lines could explain dysregulation of immune mechanisms and severe infections, which possibly bring about a chronic inflammatory response (Sato et al, 2004;Beigelman et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

Li¹,

Liang²,

Sun³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is a rare autosomal recessive disorder characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, and mental retardation. It is caused by mutations in the gene coding for neurotrophic tyrosine kinase receptor type 1 (NTRK1; MIM# 191315). We screened two Chinese CIPA cases for mutations in the NTRK1 gene and examined their phenotype. Two novel mutations of the NTRK1 gene and two known mutations were identified. Including our two novel mutations, there are now 62 different NTRK1 gene mutations reported in patients with CIPA. We find that a combination of two null alleles usually leads to the severe phenotype, while the mild form of the CIPA disease is associated with at least one mild allele. Thirty-four among the 62 mutations (55%) are located within the tyrosine kinase domain of the NTRK1 protein. We concluded that the tyrosine kinase domain is a hot spot for mutations.

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Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)

Cited by 170 publications

References 12 publications

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

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

Insensibilidad congénita al dolor con anhidrosis. Diagnóstico clínico, evolución y complicaciones. Reporte de un caso

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

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