{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:21:31Z","timestamp":1777936891661,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>X\u2010linked anhidrotic\/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ\u2010Siemens\u2010Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene. Clinically, the classic triad of hypohidrosis, hypotrichosis, and hypodontia or anodontia forms the diagnostic hallmark. Herein, we report a case of a 19\u2010year\u2010old male who presented generalized dryness of skin, heat intolerance, and inability to sweat since early childhood. On examination, the patient appeared lean, with a striking facies characterized by frontal bossing, a depressed nasal bridge (saddle nose), prominent lips, and periorbital and peri\u2010oral wrinkling, giving an aged appearance. Oral examination revealed oligodontia, with two conical\u2010shaped maxillary anterior teeth. As genetic testing is not available in Nepal, the diagnosis for this patient relied upon family history, typical clinical features, and supportive ancillary investigations such as orthopantomogram to identify hypodontia, anodontia, and\/or iodine starch test to demonstrate the reduced or absent sweat gland function. The management of this patient largely relied on providing symptomatic aid and improving his quality of life via functional restoration. A multidisciplinary team work formed the fundamental basis of management for this patient.<\/jats:p>","DOI":"10.1002\/ccr3.72650","type":"journal-article","created":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:47:08Z","timestamp":1777693628000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["X\u2010Linked Anhidrotic Ectodermal Dysplasia in A 19\u2010Year\u2010Old Male: A Classic Phenotype"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-5906-4311","authenticated-orcid":false,"given":"Laxman","family":"Chapagain","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venereology Tribhuvan University Teaching Hospital  Kathmandu Nepal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anumesh","family":"Dahal","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery Tribhuvan University Teaching Hospital  Kathmandu Nepal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pooja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology Tribhuvan University Teaching Hospital  Kathmandu Nepal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8549-625X","authenticated-orcid":false,"given":"Prajwal","family":"Pudasaini","sequence":"additional","affiliation":[{"name":"Consultant Dermatologist Civil Service Hospital of Nepal  Kathmandu Nepal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Upama","family":"Paudel","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology Tribhuvan University Teaching Hospital  Kathmandu Nepal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,1]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30033"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895\u2010409"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.10.989"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61045"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2010.04.008"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.5005\/jp\u2010journals\u201010005\u20101165"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.4103\/0976\u20109668.117012"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2024.0036"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/11937"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u2010263x.2006.00801.x"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.14048"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00417\u2010004\u20100868\u20100"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1714322"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72650","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.72650","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72650","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:47:09Z","timestamp":1777693629000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.72650"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/ccr3.72650"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.72650","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]},"assertion":[{"value":"2025-07-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e72650"}}