Changes in the skin and its appendages in anhydrotic ectodermal dysplasia

Anhydrotic ectodermatol dysplasia is a group of hereditary skin diseases accompanied by the development of tissue abnormalities in the ectoderm. The pathology is also called Christ's syndrome – Sivensa – Touraine. There are two main forms of anomalies of ectodermal structures – anhydrotic and hydrotic. The disease was first described in the middle of the 19th century. This dermatosis debuts in childhood with the formation of a clinical picture at puberty. How anhydrotic ectodermal dysplasia manifests, read more on estet-portal.com.

Causes and symptoms of anhydrotic ectodermal dysplasia

The etiology and mechanism of pathogenesis have not yet been established. However, the development of this anomaly is associated with a defect in the gene that determines the formation of the ectoderm, notes estet-portal.com. Anhydrotic ectodermal dysplasia in most cases has a recessive X-linked type of inheritance. Therefore, pathology is more common in the form of a complete symptom complex in boys. Rare cases of the disease and females are described & nbsp; with autosomal – dominant mode of inheritance. It has been established that the disease is caused by mutations in the gene that encodes ectodysplasin-A, localized in Xq12-q13.1.

The clinical manifestations of anhydrotic ectodermal dysplasia consist of the main triad of symptoms: hypoplasia of the hair follicles, hypoplasia of the sebaceous and sweat glands, soft tissue dysmorphogenesis of the oral cavity and aplasia of the tooth germs.

Against the background of the main manifestations of pathology, patients develop a characteristic appearance.

Characteristic appearance of anhydrotic ectodermal dysplasia:

• short stature with relatively large head sizes;
• a face with a protruding forehead, zygomatic and superciliary arches;
• protruding large auricles (satyr ears);
• full twisted lips;
• saddle nose.

Changes in the skin and its appendages in anhydrotic ectodermal dysplasia

The skin of patients with anhydrotic ectodermal dysplasia is pale and dry, ichthyoform peeling is noted, palmar – plantar keratoderma. Dry skin is expressed in the periorbital region against the background of hyperpigmentation. The mucous membrane of the oral cavity is dry, the papillae are smoothed.

Hair with signs of dystrophy, colorless, dull. Possible severe hair thinning up to alopecia. Eyebrows and eyelashes are sparse or absent.

Anhydrotic ectodermal dysplasia is characterized by dental abnormalities. This is hypodontia with rare teeth in the form of pins or a complete absence of teeth. The impaired function of the sweat glands is manifested by periodic hyperthermia. Violation of the sebaceous glands of the mucous membranes leads to stomatitis, atrophic rhinitis, conjunctivitis and chronic laryngitis.

The lacrimal, bronchial and digestive tract glands are atrophic. Patients with anhydrotic ectodermal dysplasia are prone to allergic diseases.

The prognosis for recovery from the disease is poor. Treatment methods are aimed at eliminating the symptoms of the disease and correcting existing disorders (prosthetics, wearing a wig, using artificial tears) and treating allergic manifestations. Thus, anhydrotic ectodermal dysplasia is a severe hereditary pathology that requires only symptomatic treatment.