Abstract
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.