Clinical and genetic characteristics of ectodermal dysplasia in four Indian children
Introduction: 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 sequenci...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Indian Journal of Dermatology |
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| Online Access: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=1;spage=54;epage=57;aulast=Kamat |
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| author | Divya Kamat Rahul Mahajan Debajyoti Chatterjee Jaivinder Yadav Rakesh Kumar Devi Dayal Dipankar De Sanjeev Handa |
| author_facet | Divya Kamat Rahul Mahajan Debajyoti Chatterjee Jaivinder Yadav Rakesh Kumar Devi Dayal Dipankar De Sanjeev Handa |
| author_sort | Divya Kamat |
| collection | DOAJ |
| description | Introduction: 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. Case Series: 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 EDA gene; variant c.924+ 8C>G (5′ proximal splice site) and c.760C>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>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 AIRE gene. The two variants detected were c.169C>T (p.Gln57Ter) and c.47C>T (p.Thr16Met). Conclusion: 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. |
| first_indexed | 2024-04-14T01:08:51Z |
| format | Article |
| id | doaj.art-1714020b1f0f457ab5c52842f471864d |
| institution | Directory Open Access Journal |
| issn | 0019-5154 1998-3611 |
| language | English |
| last_indexed | 2024-04-14T01:08:51Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Dermatology |
| spelling | doaj.art-1714020b1f0f457ab5c52842f471864d2022-12-22T02:21:09ZengWolters Kluwer Medknow PublicationsIndian Journal of Dermatology0019-51541998-36112022-01-01671545710.4103/ijd.ijd_406_21Clinical and genetic characteristics of ectodermal dysplasia in four Indian childrenDivya KamatRahul MahajanDebajyoti ChatterjeeJaivinder YadavRakesh KumarDevi DayalDipankar DeSanjeev HandaIntroduction: 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. Case Series: 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 EDA gene; variant c.924+ 8C>G (5′ proximal splice site) and c.760C>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>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 AIRE gene. The two variants detected were c.169C>T (p.Gln57Ter) and c.47C>T (p.Thr16Met). Conclusion: 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.http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=1;spage=54;epage=57;aulast=Kamatectodermal dysplasianext-generation sequencingpediatric dermatology |
| spellingShingle | Divya Kamat Rahul Mahajan Debajyoti Chatterjee Jaivinder Yadav Rakesh Kumar Devi Dayal Dipankar De Sanjeev Handa Clinical and genetic characteristics of ectodermal dysplasia in four Indian children Indian Journal of Dermatology ectodermal dysplasia next-generation sequencing pediatric dermatology |
| title | Clinical and genetic characteristics of ectodermal dysplasia in four Indian children |
| title_full | Clinical and genetic characteristics of ectodermal dysplasia in four Indian children |
| title_fullStr | Clinical and genetic characteristics of ectodermal dysplasia in four Indian children |
| title_full_unstemmed | Clinical and genetic characteristics of ectodermal dysplasia in four Indian children |
| title_short | Clinical and genetic characteristics of ectodermal dysplasia in four Indian children |
| title_sort | clinical and genetic characteristics of ectodermal dysplasia in four indian children |
| topic | ectodermal dysplasia next-generation sequencing pediatric dermatology |
| url | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=1;spage=54;epage=57;aulast=Kamat |
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