Abstract
Ectodermal dysplasia (ED) is a hereditary genetic disorder that manifests a variety of deformities in one or more of the ectodermal derivatives. Ectodermal derivatives originate from ectodermal layers during embryonic development, such as skin, nails, hair, teeth, and exocrine glands. Over 150 variants of ED are reported in the literature. It has an incidence of seven in every 100,000 live births. There are two types of ED, which are hypohidrotic (anhidrotic) and hydrotic. The types are classified according to the degree of function of the sweat glands. This report discusses the case of a 13-month-old Saudi girl with typical features of ectodermal dysplasia who presented to a dermatology clinic.
Highlights
Ectodermal dysplasia (ED) is a rare hereditary disorder that forms a diverse group of inherited diseases that demonstrate primary developmental defects
Ectodermal dysplasia (ED) is a hereditary genetic disorder that manifests a variety of deformities in one or more of the ectodermal derivatives
There are two main types of ectodermal dysplasia based on the degree of sweat gland function
Summary
Ectodermal dysplasia (ED) is a rare hereditary disorder that forms a diverse group of inherited diseases that demonstrate primary developmental defects. It is characterized by congenital defects in two or more ectodermal structures, including skin, nails, teeth, hair, or sweat glands. It can affect the development of other embryonic ectodermal organs such as parts of the eyes, ears, neural and adrenal tissues to various degrees [1]. Recent reports have shown that loss-of-function variants within the thrombospondin-type laminin G domain and epilepsy-associated repeats (TSPEAR) gene have recently been related to ectodermal dysplasia [4]. We aim to report this rare case using theoretical concepts from our discipline and recommend a course of action for similar cases in the future
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