Abstract
Early Prosthetic Treatment of Children with Hypohidrotic Ectodermal Dysplasia: Six Case Reports
Highlights
Ectodermal dysplasia (ED) is a rare hereditary disorder characterized by defects of 2 or more ectodermal structures, including teeth, nails, hair and sweat glands [1,2]
Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder characterized by defects of two or more ectodermal structures
HED phenotype is resulted from the mutation in the genes that encode ectodysplasin A (EDA), EDA receptor (EDAR), EDA receptor-associated death domain (EDARADD), and WNT10 and it can be inherited in an X-linked (XL) recessive, autosomal recessive (AR), or autosomal dominant (AD) manner [1,3,4]
Summary
Ectodermal dysplasia (ED) is a rare hereditary disorder characterized by defects of 2 or more ectodermal structures, including teeth, nails, hair and sweat glands [1,2]. Hypohidrotic ectodermal dysplasia (HED), with a prevalence of approximately one per 100000 births, is the most frequently reported type of ED. HED phenotype is resulted from the mutation in the genes that encode ectodysplasin A (EDA), EDA receptor (EDAR), EDA receptor-associated death domain (EDARADD), and WNT10 and it can be inherited in an X-linked (XL) recessive, autosomal recessive (AR), or autosomal dominant (AD) manner [1,3,4]. EDA, normally expressed in ectodermal tissues such as keratinocytes, hair follicles, and sweat glands, seems to play an important role as a signaling molecule mainly during fetal and neonatal development. More than 100 mutations in the EDA associated with HED had been reported [1,3]. HED mainly affects males, whereas females are mainly carriers [3,4]
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