{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:22:05Z","timestamp":1787757725302,"version":"build-2784847793"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>Ectodermal dysplasias (EDs) affect structures derived from the ectoderm such as skin, its appendages, nail, and teeth. In this series, we describe four patients presenting with a clinical phenotype of dysplasia of one or more ectodermal structures who underwent next-generation sequencing for mutational analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Series:<\/jats:title>\n                    <jats:p>\n                      The clinical phenotype of three patients was hypohidrotic ectodermal dysplasia (HED) and one patient was diagnosed with autoimmune polyglandular syndrome (APS) type 1. Two patients with classical clinical features of X-linked HED (XLHED) had mutations in\n                      <jats:italic toggle=\"yes\">EDA<\/jats:italic>\n                      gene; variant c.924+ 8C&gt;G (5\u2032 proximal splice site) and c.760C&gt;T (p.Gln254Ter). Case 3 had clinical phenotype of HED with urticaria pigmentosa, which was confirmed on skin biopsy and immunohistochemistry. This patient was found to have mutation in C1orf172; c.449G&gt;A (p.Arg150Gln) which has not been reported previously. Case 4 was diagnosed to have APS type 1 with cutaneous features of discoloration of teeth and chronic mucocutaneous candidiasis. This patient had a compound heterozygous mutation of\n                      <jats:italic toggle=\"yes\">AIRE<\/jats:italic>\n                      gene. The two variants detected were c.169C&gt;T (p.Gln57Ter) and c.47C&gt;T (p.Thr16Met).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The present series highlights the clinic-genetic correlation in four patients with features of ED. Two variants of uncertain significance and two previously unreported variants were also found in this study.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijd.ijd_406_21","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T09:08:31Z","timestamp":1649927311000},"page":"54-57","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children"],"prefix":"10.4103","volume":"67","author":[{"given":"Divya","family":"Kamat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Mahajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debajyoti","family":"Chatterjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaivinder","family":"Yadav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rakesh","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devi","family":"Dayal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dipankar","family":"De","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev","family":"Handa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-10-20240829","doi-asserted-by":"crossref","first-page":"197","DOI":"10.5005\/jp-journals-10005-1165","article-title":"Ectodermal 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