Ectodermal dysplasia is a genetic disease in which there is abnormal development of teeth, hair, nails and skin glands. Ectodermal dysplasia belongs to the group of rare diseases because it affects very few people. One of them is Melanie Gaydos, who used her illness to appear in the world of fashion. What are the causes and symptoms of ectodermal dysplasia? What is its treatment?
Ectodermal dysplasia(DE) is a genetic disease, the essence of which is a developmental disorder of the external germ layer - the "building material" from which the body is formed. These include ectoderm, entoderm (also called endoderm) and mesoderm. The consequence of this disorder is the abnormal development of teeth, hair, nails and skin glands.
Ectodermal dysplasia belongs to the group of rare diseases because it occurs with a frequency of 1: 10,000 to 1: 100,000 births and more often affects boys.
Ectodermal dysplasia - causes
The cause of the disease is a genetic defect that leads to a developmental disorder of the external germ layer.
Defect inheritance may be recessive (you must inherit two defective copies of the same gene - one from each parent for symptoms of the disease to appear), X-linked (symptoms only appear in boys, women are carriers) or autosomal dominant (it is enough to inherit only one mobia of the defective gene - from one of the parents for the disease to occur). The defect may also occur spontaneously as a result of gene mutations.
Ectodermal dysplasia - symptoms
The disease develops abnormally:
- teeth - they have a characteristic, conical shape, they are incorrectly spaced, which makes chewing difficult or impossible. Moreover, the teeth are exposed to decay due to weakened enamel. It happens that teeth do not grow at all, so children have to wear dentures. Lack of dentition or its underdevelopment causes the mouth corners to drop and the lower lip to curl;
- hair - hair can be sparse, thin, brittle, light-colored or does not appear at all. The defect can also affect eyelashes and eyebrows, manifesting themselves with their complete absence;
- nails - they are thin, brittle and alteredshaped or thick (pachyonychia);
- sweat glands - they do not function properly, which causes sweating disorders. The most severe form of the disease is the glandless form, which is characterized by a complete absence of sweat glands. This leaves the skin dry, warm, and flaky, with eczema-specific eruptions. Accompanying symptoms are disturbances in the regulation of body temperature, where the slightest effort may cause the body to overheat;
- sebaceous glands - their reduced number causes roughness and hyperkeratosis of the hands and feet;
- lacrimal glands - their reduced number can lead to frequent conjunctivitis;
- salivary glands - less of them leads to dry mouth, difficult swallowing and frequent infections of the upper respiratory tract;
- eyes - the lenses and lacrimal glands are underdeveloped;
Apart from the aforementioned features, there may also be deafness, cleft lip and palate, defects of the mammary glands, defects of the heart and other organs, as well as mental retardation. Two or more fingers may also fuse together (syndactyly). The presence of an extra finger (s) (polydactyly) is rare.
Ectodermal dysplasia - diagnosis
In order to diagnose the disease, a radiological and laboratory examination is performed (sweat test, trichogram, examination of skin sections). Final diagnosis is made on the basis of genetic testing.
Ectodermal dysplasia - treatment
Due to the rarity of this disease and its diverse clinical picture, each case requires individual treatment. However, the therapy most often includes orthodontic and prosthetic treatment aimed at restoring the chewing function and eliminating facial disproportions. Skin lesions are fought with the use of hydrocortisor ointments and mineral oils.