Congenital insensitivity to pain in a 1-year-old boy

Navya, MK; Pramod, GV; Sujatha, GP; Ashok, L

doi:10.4103/jisppd.jisppd_340_18

Cited by 10 publications

(9 citation statements)

References 7 publications

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“…To date, the number of reported cases of both syndromes, HSAN-VIII and MiTES harboring PRDM12 mutations has expanded, and it is likely to increase further in the future due to the advancement of sequencing strategies [ 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 ].…”

Section: Established Prdm12 Functions: Pain Perceptionmentioning

confidence: 99%

PRDM12 in Health and Diseases

Rienzo

Zazzo

Casamassimi

et al. 2021

IJMS

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PRDM12 is a member of the PRDI-BF1 (positive regulatory domain I-binding factor 1) homologous domain (PRDM)-containing protein family, a subfamily of Kruppel-like zinc finger proteins, controlling key processes in the development of cancer. PRDM12 is expressed in a spatio-temporal manner in neuronal systems where it exerts multiple functions. PRDM12 is essential for the neurogenesis initiation and activation of a cascade of downstream pro-neuronal transcription factors in the nociceptive lineage. PRDM12 inactivation, indeed, results in a complete absence of the nociceptive lineage, which is essential for pain perception. Additionally, PRDM12 contributes to the early establishment of anorexigenic neuron identity and the maintenance of high expression levels of pro-opiomelanocortin, which impacts on the program bodyweight homeostasis. PRDMs are commonly involved in cancer, where they act as oncogenes/tumor suppressors in a “Yin and Yang” manner. PRDM12 is not usually expressed in adult normal tissues but its expression is re-activated in several cancer types. However, little information is currently available on PRDM12 expression in cancers and its mechanism of action has not been thoroughly described. In this review, we summarize the recent findings regarding PRDM12 by focusing on four main biological processes: neurogenesis, pain perception, oncogenesis and cell metabolism. Moreover, we wish to highlight the importance of future studies focusing on the PRDM12 signaling pathway(s) and its role in cancer onset and progression.

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Section: Established Prdm12 Functions: Pain Perceptionmentioning

confidence: 99%

PRDM12 in Health and Diseases

Rienzo

Zazzo

Casamassimi

et al. 2021

IJMS

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“…De acordo com os artigos considerados, o sexo masculino apareceu isolado em 15 estudos, (Arhakis et al, 2010;Elhennawy et al, 2017;Fantuzzo et al, 2014;Gantha et al, 2017;Gao et al, 2013;Gaur et al, 2018;Gisbert de la Cuadra et al, 2016a;Kwon et al, 2015;Mowafy et al, 2017b;Navya et al, 2019;Rangeeth et al, 2011;Romero Maroto et al, 2014;Soussou et al, 2019;Wadenya et al, 2011;Williamson et al, 2016); o feminino isolado em 4 estudos (Brissaud et al, 2016;Herrera & Pollock, 2014;Mistry et al, 2017) e ambos os sexos em 8 estudos (Ashwin et al, 2015;El Khatib et al, 2014;Labib et al, 2011;Olczak-Kowalczyk et al, 2011;Panek et al, 2012;Siragusa et al, 2013;Suhaib et al, 2017). Quando observada a população mais frequentemente acometida por automutilação oral, o grupo "crianças" apareceu em 21 estudos (AlSadhan & Al-Jobair, 2017b;Ashwin et al, 2015;Brissaud et al, 2016;El Khatib et al, 2013;Fantuzzo et al, 2014;Gao et al, 2013;Gaur et al, 2018;Gisbert de la Cuadra et al, 2016b;Kwon et al, 2015;Labib et al, 2011;L.…”

Section: Masculino/ Femininounclassified

“…Quando observada a população mais frequentemente acometida por automutilação oral, o grupo "crianças" apareceu em 21 estudos (AlSadhan & Al-Jobair, 2017b;Ashwin et al, 2015;Brissaud et al, 2016;El Khatib et al, 2013;Fantuzzo et al, 2014;Gao et al, 2013;Gaur et al, 2018;Gisbert de la Cuadra et al, 2016b;Kwon et al, 2015;Labib et al, 2011;L. N. Mistry et al, 2017;Mowafy et al, 2017a;Navya et al, 2019;Olczak-Kowalczyk et al, 2011;Romero Maroto et al, 2014;Siragusa et al, 2013;Soussou et al, 2019;Suhaib et al, 2017;Wadenya et al, 2011;Williams, 2015), enquanto que os "adolescentes", em 11 estudos (Ashwin et al, 2015;Carra et al, 2013;Elhennawy et al, 2017;Gantha et al, 2017;Gisbert de la Cuadra et al, 2016b;Herrera & Pollock, 2014;Olczak-Kowalczyk et al, 2011;Panek et al, 2012;Rangeeth et al, 2011;Siragusa et al, 2013;Topouzelis et al, 2010).…”

Section: Masculino/ Femininounclassified

“…Insensibilidade congênita à dor (Navya et al 2019;Soussou et al, 2019;Elhennawy et al, 2017;Ashwin et al, 2015;Gaur et al, 2018;Gao et al, 2013;Labib et al, 2011); Síndrome de Prader-Willi -PWS (Olczak-Kowalczyk et al, 2011); Sindrome de Lesch-Nyhan la Cuadra et al, 2016;Romero Maroto et al, 2014); Síndrome de Kabuki (Wadenya et al, 2011); Síndrome de Joubert Plus (Mowafy, Wahba, Sharaf, 2017).…”

Section: Hereditáriosunclassified

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Automutilação oral em crianças e adolescentes e fatores associados: revisão integrativa

Melo

Oliveira

Rosendo

et al. 2021

RSD

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Introdução: O comportamento autolesivo é definido como um ato dirigido a si mesmo que resulta em um dano tecidual. As estruturas orais podem ser traumatizadas por esse tipo de comportamento e sua incidência vem aumentando entre as crianças. Objetivo: Apresentar os fatores associados à automutilação oral em crianças e adolescentes, atentando para o diagnóstico diferencial das lesões orais. Metodologia: Foi realizada uma revisão integrativa da literatura a partir de pesquisa nas bases de dados Medline (PubMed), entre 2010 e 2020. Foram selecionados 27 artigos, sendo 5 caso-controle, 1 transversal e 21 relatos de caso. Resultados: Os estudos avaliados foram desenvolvidos em diversos países, em hospitais, ambulatórios, institutos, universidades, escolas e orfanato. Nos estudos observacionais as amostras variaram entre 30 e 303 participantes. A automutilação oral foi relacionada aos fatores sociais, hereditários, neurológicos e psiquiátricos. Observou-se também o envolvimento de indivíduos sem comorbidades em casos de automutilação oral. Nesses estudos houve mais crianças que adolescentes envolvidos em quadros de automutilação oral. Conclusão: Fatores hereditários, neurológicos, psiquiátricos e sociais são apontados como fatores associados aos quadros de automutilação oral em crianças e adolescentes. Entretanto, a literatura ainda é escassa em padronização de protocolo para diagnóstico de automutilação oral, assim outros estudos são necessários para determinação de quais fatores podem ser pertinentes a esses casos quando envolvem crianças e adolescentes.

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“…There is no standard treatment and surgical reconstruction remains the only invasive intervention in regard to CIPA with joint deformity. [5,6] Those patients are more prone to have multiple infections, most commonly Staphylococcus aureus infection. [5] Orthopedic problems and complications such as autoamputation, self-mutilation, septic arthritis, osteomyelitis, and scoliosis are pretty common.…”

Section: Introductionmentioning

confidence: 99%

Congenital insensitivity to pain with anhidrosis and multiple Charcot joints in a child: A case report

Batouk

Almutairi

SaemAldahar

et al. 2021

JMSR

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Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive condition affecting various tracts in the peripheral and autonomic nervous system. CIPA has an incidence of 1/125,000,000. The only known causative gene to date is neurotrophic tyrosine receptor kinase 1 (NTRK1), which is located on chromosome 1q21-q22. The mutation in the NTRK1 gene is associated with consanguineous marriages. Manifestations of this condition are highly variable, with insensitivity to pain being the mainstay. Patients are commonly presented with bruises, joint dislocations, multiple fractures, oral manifestations, and disfigured joints. We present a rare case of a CIPA patient manifested with Charcot’s joints. A 15-year-old male presented with multiple destructed joints in both knees, ankles, and wrists. He uses walking aids and has a loss of response to painful stimuli. The condition started at the age of 7 years. Other manifestations were fever, anhidrosis, mental retardation, and self-mutilating behaviors. The parents have a consanguineous marriage. Nerve and muscle biopsies were obtained and revealed no significant pathological abnormalities. However, imaging showed grossly disorganized joints and the clinical diagnosis of CIPA was confirmed. As illustrated in this case, the occurrence of CIPA syndrome, hereditary sensory and autonomic neuropathy Type IV, remains highly unprecedented and genetic testing is mandatory for the diagnosis. In addition, nerve and muscle biopsy should be obtained, and advanced imaging such as magnetic resonance imaging is needed to evaluate the case fully. There is no definitive therapeutic intervention for this condition, therefore, education and prevention are important to improve the quality of life of a CIPA patient.

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Congenital insensitivity to pain in a 1-year-old boy

Cited by 10 publications

References 7 publications

PRDM12 in Health and Diseases

PRDM12 in Health and Diseases

Automutilação oral em crianças e adolescentes e fatores associados: revisão integrativa

Congenital insensitivity to pain with anhidrosis and multiple Charcot joints in a child: A case report

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