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This article will give a brief overview of the ectoderm, which is one of the three layers of the early tri-laminar embryo formed by gastrulation during early development. Normal embryonic development requires proper formation of the three layers and complex signaling between them. It will discuss the development, pathophysiology, and clinical significance of the ectodermal layer in the following paragraphs.
The pathophysiology of ectodermal dysplasias involves a complex set of genes and gene products that result in alteration of pathways necessary for proper development of the ectoderm. One such gene us the EDA gene, which is a part of a group of genes that provide instructions for making proteins such as ectodysplasin A. Ectodysplasin A is part of a group of proteins that are important in signaling for the interactions between the ectoderm and the mesoderm. These interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth and sweat glands. Mutations in the EDA, EDAR or EDARADD gene results in defective ectodysplasin A formation thereby preventing normal interactions between these layers and therefore impairing normal ectodermal and mesodermal tissue development. Hypohidrotic ectodermal dysplasia is a disorder that has associations with a mutation in the EDA-Ectodysplastin A gene pathway.[5]