Focal facial dermal dysplasia [2 genes]

Focal facial dermal dysplasias are a group of disorders that present lesions similar to a scar or aplasia cutis congenita at the bitemporal or preauricular level. They are classified into 4 groups, although the responsible gene is only known in two entities. The two genes involved are:

• TWIST2: causes type 3 form (Setleis type). It is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, where the leonine facies stands out as the most characteristic finding.
• CYP26C1: causes type 4 form. In this dysplasia, the lesions appear between the ear and the corner of the mouth and typically have a vesicular appearance.

Unknown

Recommended service when one of the two forms of facial focal dermal dysplasia with known genetics is suspected or cannot be ruled out.

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

Service indicated when one of the two forms of facial focal dermal dysplasia with known genetics is suspected or cannot be ruled out, namely types 3 and 4.