{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T04:08:12Z","timestamp":1749787692138,"version":"3.41.0"},"reference-count":0,"publisher":"Pakistan Medical Association","issue":"06","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pak Med Assoc"],"abstract":"<jats:p>Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of sensory neurons caused by genetic mutations in the Neurotrophic Tyrosine Kinase 1 (NTRK1) gene which leads to impaired pain sensation, accompanied by anhidrosis (the inability to sweat) and varying degrees of intellectual disability.\nHerein, we report a case of CIPA that presented with infection of an amputated left toe, with prior admissions due to various injuries. The patient had no apparent intellectual disability. A general physical examination yielded various scars with a predilection for the elbows, knees, and shins as well as an early loss of teeth (front incisors of the lower jaw). The patient exhibited anhidrosis, a self-injurious behaviour, and an abnormal response to painful stimuli, all of which led to a clinical diagnosis of CIPA.\nKeywords: Congenital insensitivity to pain with anhidrosis, Loss of teeth, High body temperature.<\/jats:p>","DOI":"10.47391\/jpma.11450","type":"journal-article","created":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T15:36:09Z","timestamp":1748792169000},"page":"984-987","source":"Crossref","is-referenced-by-count":0,"title":["Congenital insensitivity to pain with anhidrosis"],"prefix":"10.47391","volume":"74","author":[{"given":"Meher","family":"Ayyazuddin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nushra","family":"Maqsood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saman","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Muhammad Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spenta","family":"Kakalia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"26547","published-online":{"date-parts":[[2025,6,1]]},"container-title":["Journal of the Pakistan Medical Association"],"original-title":[],"link":[{"URL":"https:\/\/www.jpma.org.pk\/index.php\/public_html\/article\/download\/11450\/4161","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.jpma.org.pk\/index.php\/public_html\/article\/download\/11450\/4161","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T15:44:33Z","timestamp":1749743073000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jpma.org.pk\/index.php\/public_html\/article\/view\/11450"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,1]]},"references-count":0,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2025,6,1]]}},"URL":"https:\/\/doi.org\/10.47391\/jpma.11450","relation":{},"ISSN":["0030-9982","0030-9982"],"issn-type":[{"type":"electronic","value":"0030-9982"},{"type":"print","value":"0030-9982"}],"subject":[],"published":{"date-parts":[[2025,6,1]]}}}