{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T23:06:06Z","timestamp":1789427166760,"version":"build-2803163510"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Papillon\u2013Lef\u00e8vre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS. Further clinical examination and detailed history taking shifted the diagnosis to CIPA. CIPA could be misdiagnosed as PLS. Congenital insensitivity to pain with anhidrosis, although rare, should be considered in the differential diagnosis of PLS.<\/jats:p>","DOI":"10.1055\/s-0037-1602801","type":"journal-article","created":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T18:56:55Z","timestamp":1493751415000},"page":"238-240","source":"Crossref","is-referenced-by-count":2,"title":["Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon\u2013Lef\u00e8vre Syndrome?"],"prefix":"10.53391","volume":"06","author":[{"given":"Maha","family":"Abouzaid","sequence":"first","affiliation":[{"name":"Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manal","family":"Thomas","sequence":"first","affiliation":[{"name":"Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada","family":"El-Kamah","sequence":"first","affiliation":[{"name":"Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa","family":"Mostafa","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2017,5,2]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0037-1602801.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:28Z","timestamp":1758138328000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0037-1602801"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,2]]},"references-count":0,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2017,11,13]]},"published-print":{"date-parts":[[2017,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0037-1602801","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,2]]}}}