{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T09:58:11Z","timestamp":1763114291889,"version":"3.45.0"},"reference-count":8,"publisher":"Pan African Medical Journal","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pan Afr Med J"],"abstract":"<jats:p>Ectodermal dysplasias are characterized by abnormalities in two or more ectodermal structures, including hair, sweat glands, nails etc, and are a rare group of congenital disorders. It is characterized by the triad of three conditions, namely hypohidrosis, hypotrichosis, and hypodontia. The phenotypic expression of ectodermal dysplasia may be variable, often raising problems in clinical assessments and care, particularly in paediatric age group where early manifestations can be subtle or nonspecific. While most cases reveal a clear inheritance pattern, sporadic presentations in the absence of similar complaints in the family are uncommon and raise significant diagnostic difficulties. Early identification and multidisciplinary treatment are imperative to mitigate complications such as recurrent infections, thermoregulatory dysfunction, and psychosocial impact. In this report, we highlight the clinical presentation, diagnostic evaluation, and management considerations in a 10-year-old male child diagnosed as a sporadic case of ectodermal dysplasia.<\/jats:p>","DOI":"10.11604\/pamj.2025.52.90.48271","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T09:54:02Z","timestamp":1763114042000},"source":"Crossref","is-referenced-by-count":0,"title":["A classical variant of ectodermal dysplasia: a case report"],"prefix":"10.11604","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1877-7558","authenticated-orcid":false,"given":"Switi","family":"Jawade","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Nursing, Shalinitai Meghe College of Nursing, Salod (Hirapur), Datta Meghe Institute of Higher Education and Research (Deemed to be University), Sawangi, Wardha, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pratibha","family":"Wankhede","sequence":"additional","affiliation":[{"name":"Department of Community Health nursing, Shalinitai Meghe College of Nursing, Salod (Hirapur), Datta Meghe Institute of Higher Education and Research (Deemed to be University), Sawangi, Wardha, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0009-9114","authenticated-orcid":false,"given":"Ranjana","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Community Health nursing, Shalinitai Meghe College of Nursing, Salod (Hirapur), Datta Meghe Institute of Higher Education and Research (Deemed to be University), Sawangi, Wardha, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pratiksha","family":"Munjewar","sequence":"additional","affiliation":[{"name":"Department of Medical Surgical Nursing, Shalinitai Meghe College of Nursing, Salod (Hirapur), Datta Meghe Institute of Higher Education and Research (Deemed to be University), Sawangi, Wardha, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vidhya","family":"More","sequence":"additional","affiliation":[{"name":"Department of Community Health nursing, Shalinitai Meghe College of Nursing, Salod (Hirapur), Datta Meghe Institute of Higher Education and Research (Deemed to be University), Sawangi, Wardha, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4870","published-online":{"date-parts":[[2025,11,3]]},"reference":[{"key":"ref0","doi-asserted-by":"crossref","unstructured":"Chappidi V, Voulligonda D, Bhogavaram B, Reddy PK. Ectodermal dysplasia: Report of two cases in a family and literature review. J Family Med Prim Care. 2019;8(3):1263-1265. PubMed | Google Scholar","DOI":"10.4103\/jfmpc.jfmpc_48_19"},{"key":"ref1","unstructured":"Rajendran R. Shafer\u00b4s textbook of oral pathology. Elsevier, India. 2009. Google Scholar"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Kumar A, Thomas P, Muthu T, Mathayoth M. Christ-Siemens-Touraine Syndrome: A Rare Case Report. J Pharm Bioallied Sci. 2019 Jan-Mar;11(1):102-104. PubMed | Google Scholar","DOI":"10.4103\/JPBS.JPBS_36_18"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"Tr\u00eddico LA, Antonio JR, Pozetti EMDO, Rosa AMM, Antonio CR. Clouston Syndrome: 25-year follow-up of a patient. An Bras Dermatol. 2015 Nov-Dec;90(6):897-9. PubMed | Google Scholar","DOI":"10.1590\/abd1806-4841.20153990"},{"key":"ref4","doi-asserted-by":"crossref","unstructured":"Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE et al. A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001 Jul;69(1):67-74. PubMed | Google Scholar","DOI":"10.1086\/321271"},{"key":"ref5","doi-asserted-by":"crossref","unstructured":"Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child. 1987;62(10):989-96. PubMed | Google Scholar","DOI":"10.1136\/adc.62.10.989"},{"key":"ref6","doi-asserted-by":"crossref","unstructured":"Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996;13(4):409-16. PubMed | Google Scholar","DOI":"10.1038\/ng0895-409"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Lexner MO, Bardow A, Hertz JM, Almer L, Kreiborg S. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia. Int J Paediatr Dent. 2007;17(1):10-18. PubMed | Google Scholar","DOI":"10.1111\/j.1365-263X.2006.00801.x"}],"container-title":["Pan African Medical Journal"],"original-title":[],"deposited":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T09:54:05Z","timestamp":1763114045000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.panafrican-med-journal.com\/content\/article\/52\/90\/full\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,3]]},"references-count":8,"URL":"https:\/\/doi.org\/10.11604\/pamj.2025.52.90.48271","relation":{},"ISSN":["1937-8688"],"issn-type":[{"value":"1937-8688","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,3]]},"article-number":"48271"}}