Ectodermal dysplasia: An overview

Abstract

Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder mainly striking the growth or purpose of the teeth,hair, nails and sweat glands. Ectodermal dysplasia can also affect the skin, the lens or retina of the eye, partsof the inner ear, the growth of fingers and toes, the nerves and other parts of the body providing to thes pecific syndrome. All the syndrome generallyinvolves a different combination of symptoms, which can range from mild to severe. The antiquity andlessons learned from hypohidrotic ectodermaldysplasia (HED) can serve as an example for investigating the root and pathogenesis of other ectodermal dysplasia syndromes by denoting that phenotypically identical syndromes can be caused by mutations in different genes, mutations in the same gene can lead to different phenotypes and that mutations in the genes further ensue in the same indicating pathway may alter the phenotype quite profoundly. This paper aims to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder.