{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T08:41:52Z","timestamp":1788856912435,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,12,15]],"date-time":"2024-12-15T00:00:00Z","timestamp":1734220800000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such as severe injuries from the inability to sense pain, make reporting cases critical. A 5\u2010year\u2010old boy, the third child of consanguineous parents, was referred for a fractured femur. His history includes recurrent fevers, pain insensitivity, self\u2010mutilation, and anhidrosis with compensatory hyperhidrosis. Examination showed multiple ulcers, dry skin, missing digits, dental issues, and corneal ulcers. The neurological assessment confirmed loss of pain and temperature sensation. Genetic testing confirmed NTRK1 mutations, diagnosing CIPA. The femur fracture was treated with a hip spica cast, and injury prevention and temperature management were advised to the parents. This case underscores the importance of early diagnosis and comprehensive management of CIPA, highlights the need for genetic counseling for at\u2010risk families, and provides insights into managing the condition's complex challenges. A multidisciplinary approach is essential to improve patient outcomes and quality of life.<\/jats:p>","DOI":"10.1002\/ccr3.70004","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T04:19:21Z","timestamp":1734322761000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self\u2010Injury Complications in a 5\u2010Year\u2010Old Boy: A Case Report"],"prefix":"10.1002","volume":"12","author":[{"given":"Zubair","family":"Amin","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Rawalpindi Medical University  Rawalpindi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Humza","family":"Saeed","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Rawalpindi Medical University  Rawalpindi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed Imam","family":"Naufil","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Rawalpindi Medical University  Rawalpindi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadaf","family":"Saba","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Benazir Bhutto Hospital  Rawalpindi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Imtiaz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Pakistan Ordinance Factory Hospital  Wah Cantt Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed Hassan","family":"Akhlaq","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Fatima Memorial Hospital College of Medicine and Dentistry  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5248-0749","authenticated-orcid":false,"given":"Muhammad Husnain","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Tentishev Satkynbai Memorial Asian Medical Institute  Kant Kyrgyzstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8599-6861","authenticated-orcid":false,"given":"Masab","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Punjab Medical College  Faisalabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,15]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1963.00460030083008"},{"key":"e_1_2_13_3_1","volume-title":"GeneReviews\u00ae","author":"Indo Y.","year":"1993"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm14060570"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15366"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304\u20103959(02)00482\u20107"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijpd.IJPD_107_20"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.227"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MS9.0000000000001971"},{"issue":"2","key":"e_1_2_13_10_1","first-page":"134","article-title":"Congenital Insensitivity to Pain With Anhidrosis (CIPA): A Case Report","volume":"13","author":"Safari A.","year":"2011","journal-title":"Iranian Red Crescent Medical Journal"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0300060517747164"},{"issue":"3","key":"e_1_2_13_12_1","first-page":"412","article-title":"Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases","volume":"22","author":"Daneshjou K.","year":"2012","journal-title":"Iranian Journal of Pediatrics"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.4103\/ortho.IJOrtho_378_18"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.70004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T12:21:01Z","timestamp":1748348461000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.70004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1002\/ccr3.70004"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.70004","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"2024-09-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70004"}}