Ectodermal dysplasias (extended panel) [157 genes]

Ectodermal dysplasias are a heterogeneous group of diseases globally characterized by findings in two or more of the following places: teeth, skin, hair, nails, or sebaceous and eccrine glands. More than 150 different types have been proposed, some being extremely rare.

The main clinical signs that we can find are:

• Teeth: small primary teeth; anodontia or hypodontia of the secondary ones; teeth with a conical or peg shape; premature loss of teeth; delayed eruption; dental enamel defects.
• Skin: atopic dermatitis; skin dryness; photosensitivity; palmoplantar keratoderma; facial telangiectasias.
• Hair: abnormalities in the quantity, quality, or structure of the hair, frequently including the scalp, eyebrows, and eyelashes.
• Nails: fragile, dystrophic, with ridges or holes, as well as completely absent.
• Sweating: hyper or hypohidrosis in palms and soles.

3.5 / 10,000 newborns.

When there is a suspected diagnosis of ectodermal dysplasia, the service would be indicated to confirm the genetic origin of the disease. Given that the service includes all the genes related to ectodermal dysplasias and those related to the entities to be considered during the differential diagnosis, it would be an appropriate service in this clinical context.

The benefits of a genetic diagnosis in this context are aimed at closing the diagnosis and family genetic counseling.

Indicated when there is a suspicion of ectodermal dysplasia after expert dermatological evaluation.