Indian Journal of Dermatology
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Year : 2022  |  Volume : 67  |  Issue : 1  |  Page : 54-57

Clinical and genetic characteristics of ectodermal dysplasia in four Indian children

1 Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
3 Department of Pediatric Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Rahul Mahajan
Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Sector 12, Chandigarh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijd.ijd_406_21

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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.

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