{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T16:48:55Z","timestamp":1787417335676,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T00:00:00Z","timestamp":1687392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital insensitivity to pain (CIP) is a rare phenotype characterized by the inability to perceive pain stimuli with subsequent self\u2010injuries, whereas CIP associated with anhidrosis (CIPA) is an overlapping phenotype mainly characterized by insensitivity to noxious stimuli and anhidrosis. CIP is primarily associated with pathogenetic variants in the <jats:italic>SCN9A<\/jats:italic> gene while CIPA is associated with pathogenetic variants in <jats:italic>NGF<\/jats:italic> and <jats:italic>NRTK<\/jats:italic> genes. However, in recent years, a significant overlap between these two disorders has been observed highlighting the presence of anhidrosis in <jats:italic>SCN9A<\/jats:italic> variants. We report the cases of two siblings (age 4 and 6\u2009years) born from consanguineous parents presenting with a previously undescribed phenotype due to a novel pathogenic variant in <jats:italic>SCN9A<\/jats:italic> clinically characterized by congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.<\/jats:p>","DOI":"10.1111\/pde.15366","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T18:55:54Z","timestamp":1687632954000},"page":"80-83","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel mutation in the <scp><i>SCN9A<\/i><\/scp> gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7015-8319","authenticated-orcid":false,"given":"Maurizio","family":"Romagnuolo","sequence":"first","affiliation":[{"name":"Dermatology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"},{"name":"Department of Pathophysiology and Transplantation Universit\u00e0 Degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Moltrasio","sequence":"additional","affiliation":[{"name":"Dermatology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Cavalli","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Brena","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1164-2802","authenticated-orcid":false,"given":"Gianluca","family":"Tadini","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-019-0974-3"},{"key":"e_1_2_8_3_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Indo 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