Anhidrotic ectodermal dysplasia (AED) or Christ-Siemens-Touraine syndrome is a rare, hereditary genodermatosis, classically X-linked recessive disorder.

We report the cases of 3 children and a male adult.

The mode of diagnosis, the clinical signs and the therapeutic option are detailed.

AED is characterized by a malformative state derived from the ectodermal layer of the embryo which results in the triad: anhidrosis (or hypohidrosis), hypotrichosis, anodontia (or hypodontia). Hypohidrosis causes thermoregulation disorders, which in the infant, can be life threatening. It is important to recognize the affection early to avoid accidents of hyperthermia. Once the diagnosis is established, family investigations are necessary to determine whether it is a family form or a new sporadic case. Carrier mothers must be informed of the high risk recurrence for future male infants.

Symptomatic maxillo-facial treatment strives to improve masticatory function and facial growth and thus limit the psychological impact and improve patient comfort.