{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T17:01:02Z","timestamp":1780419662888,"version":"3.54.1"},"reference-count":17,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:00:00Z","timestamp":1774310400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:00:00Z","timestamp":1774310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Skin Appendage Disord"],"abstract":"<jats:p>Introduction: Nail changes often reflect underlying systemic disease and may be the presenting manifestation of rare genetic disorders. Here, we report 2 siblings with congenital insensitivity to pain with anhidrosis (CIPA) with prominent nail findings. Case Report: We report two brothers who presented with prominent nail abnormalities including dystrophy, brachyonychia, anonychia, paronychia, and pseudo-clubbing, along with acro-osteolysis of distal phalanges. Subsequent evaluation revealed insensitivity to pain and temperature, intellectual disability, recurrent fractures, self-mutilation, and anhidrosis, leading to a diagnosis of CIPA. Genetic analysis confirmed a novel homozygous NTRK1 gene deletion. Conclusion: This report highlights the importance of nail manifestations as potential diagnostic indicators of CIPA.<\/jats:p>","DOI":"10.1159\/000551554","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T17:01:24Z","timestamp":1774371684000},"page":"1-6","source":"Crossref","is-referenced-by-count":0,"title":["Nail Changes in Congenital Insensitivity to Pain with Anhidrosis: A Case Report"],"prefix":"10.1159","author":[{"given":"Aysha","family":"Najeeb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7135-8494","authenticated-orcid":false,"given":"Vishal","family":"Gaurav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaushal K.","family":"Verma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,3,24]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.179"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1177\/26330040241292378"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s002470100506"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00776-014-0595-2"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000619)92:5%3c353::aid-ajmg12%3e3.0.co;2-c"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.4103\/0019-5413.80047"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.4103\/ijpd.ijpd_142_16"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.4103\/ijd.ijd_1179_23"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.338691"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.48294"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1224"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/s0887-8994(01)00278-8"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.2147\/JPR.S247472"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000449296"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.31"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.4103\/idoj.idoj_599_23"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-485"}],"container-title":["Skin Appendage Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000551554","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T16:00:57Z","timestamp":1780416057000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000551554"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,24]]},"references-count":17,"URL":"https:\/\/doi.org\/10.1159\/000551554","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.31840267","asserted-by":"subject"}]},"ISSN":["2296-9195","2296-9160"],"issn-type":[{"value":"2296-9195","type":"print"},{"value":"2296-9160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,24]]}}}