7th June 2025

Aetiology

Occurs when the ectodermal layer of the skin fails to develop
Vast group of inherited disorders
- Primarily involving defects in hair, teeth, nails or sweat glands.
- Additionally, tissues of ectodermal origin are often affected which include the ears, eyes, lips, mucous membranes of the mouth or nose and the CNS.
It is caused by a defect in the transmembrane protein ectodysplasin which is a member of the TNF related ligand proteins involved in the early epithelial-mesenchymal interaction that is essential for the regulation of the ectodermal appendage formation
They are present from birth and are non-progressive in nature.
The classification is based on the presence or absence of the four primary ectodermal dysplasia defects:
- Dental dysplasia
- Trichodysplasia (hair dysplasia)
- Onchodysplasia (nail dysplasia)
- Dyshidrosis (sweat gland dysplasia)

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