A Case Report on Christ-Siemens-Touraine Syndrome

The teeth, skin, hair, nails and eccrine and sebaceous glands which are tissues ectodermally or mesodermally derived can be affected by rare disorders called ectodermal dysplasias.

The most common type of ectodermal dysplasias is known as Christ-Siemens-Touraine syndrome or anhidrotic ectodermal dysplasia.

A twelve-year old child from consanguineous parents is suffering from poor perspiration and hyperthermia while playing soccer. On physical examination, he shows frontal bossing, perioribital wrinkling, thick lips with proeminent chin, scarse or no hair and only three conical teeth. The diagnosis of Christ-Siemens-Touraine syndrome was suggested and was confirmed by the identification of the Ectodysplasin A (EDA) allele.

This entity is important to know because even though there is no curative treatment so far, the patient can make some adjustments that involve moisturizing and avoiding hot environments.

In the view of the rarity of the cases described in the literature, this case is reported