{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T09:46:23Z","timestamp":1769334383328,"version":"3.49.0"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T00:00:00Z","timestamp":1765843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Congenital insensitivity to pain with anhidrosis (CIPA), caused by biallelic pathogenic variants in the NTRK1 gene, is a rare disorder characterized by the loss of pain sensation, anhidrosis, and impaired temperature regulation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p>We present a clinical case of a 2-year-old male Chinese patient, compound heterozygous for 2 NTRK1 pathogenic variants\u2014c.851-33T&amp;gt;A and c.1805G&amp;gt;A\u2014confirmed by clinical exome sequencing. The patient exhibited classic CIPA symptoms, including recurrent fever episodes, xerotic skin, sparce hair, abnormality of the dentition, and anhidrosis. The child also displayed preserved fine touch but lacked pain response to stimuli, emphasizing the clinical challenges posed by pain insensitivity, including an increased risk of injury. Multidisciplinary management approach involving dermatology, pediatrics, pediatric neurology, pediatric dentistry, pain management, and genetics was coordinated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This case reinforces the importance of early diagnosis and lifelong palliative care to prevent complications and manage symptoms. In addition, this report highlights the higher prevalence of CIPA in Asian populations and the need for ongoing research to explore potential therapeutic interventions targeting pain perception and neurodevelopmental pathways.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/labmed\/lmaf085","type":"journal-article","created":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T13:05:25Z","timestamp":1762952725000},"source":"Crossref","is-referenced-by-count":0,"title":["Complete phenotyping of the pathogenic genotype of the\n                    <i>NTRK1<\/i>\n                    gene in early childhood"],"prefix":"10.1093","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7824-7239","authenticated-orcid":false,"given":"Antonio","family":"Sierra-Rivera","sequence":"first","affiliation":[{"name":"Genetics Laboratory, Department of Clinical Analysis, General University Hospital Consortium of Valencia , Valencia,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Altea","family":"Esteve-Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Department of Dermatology, General University Hospital Consortium of Valencia , Valencia,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Ballesteros-Cogollos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, General University Hospital Consortium of Valencia , Valencia,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavi","family":"Aparisi-Domingo","sequence":"additional","affiliation":[{"name":"Department of Clinical Analysis, General University Hospital of Ciudad Real , Ciudad Real,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Montesinos-Sanch\u00eds","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, General University Hospital Consortium of Valencia , Valencia,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo","family":"F\u00e1bregat-Cid","sequence":"additional","affiliation":[{"name":"Department of Multidisciplinary Pain Management, General University Hospital Consortium of Valencia , Valencia,","place":["Spain"]},{"name":"Department of Surgery, University of Valencia , Valencia,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Llena-Puy","sequence":"additional","affiliation":[{"name":"Department of Stomatology, University of Valencia , Valencia,","place":["Spain"]},{"name":"Department of Primary Care Dentistry, General University Hospital Consortium of Valencia , 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