Urbach-Vite's disease is extremely raregenetic pathology, transmitted by autosomal recessive type. The cause of the disease is a mutation on the 1st chromosome in the ECM1 gene. In medical literature, there is another name for the disease - proteinosis lipoid.
The first case of a disease whose symptomscorresponded to the Urbach-Vite disease, was registered in 1908. He was described by the Swiss professor-otolaryngologist Friedrich Siebenmann. And in 1925 the Swiss histologist and dermatologist Johann Mischer described three more such cases.
However officially this rare recessivethe genetic disease was registered only in 1929 by the dermatologist Urbach and the otolaginologist Vite. It was Erich Urbach who called the pathology of lipid proteinosis, since he believed that it was associated with an imbalance of lipid and protein deposits in the tissues of the body.
Since the discovery was recorded by different data from three hundred to four hundred cases of the disease around the world.
Among the most common symptoms of ailment- a rash around the eyelids in the form of papules (they are also present on the lyub and neck), the voice becomes hoarse in the patient, a decrease in the regenerative capacity of the skin, a thickening of the mucous membrane and compaction of the brain tissue in the temporal region. The last symptom is the most dangerous, since it can lead to temporal epilepsy.
The disease first manifests itself in childhood (3-7 years). Then there are rashes on the skin and hoarseness of the voice.
It is worth noting that these symptoms are ambiguous andcan differ greatly in different patients. As the disease Urbach-Vite is transmitted autosomal recessive, it does not manifest itself if the genotype of a normal dominant allele. Often people do not even realize that they are the carriers of the mutant gene. Some media is a rare disease has no symptoms. And only if both parents have the gene responsible for lipoid proteinosis, the disease can manifest itself in the offspring.
The disease of Urbach-Vite is difficult to diagnose, since its signs are not universal. If there is a rash (papules) on the eyelids, a papular rash on the skin of the neck and forehead, the diagnosis includes a visit to the dermatologist.
If a suspected Urbach-Vita disease is prescribedMRI without contrast, which allows you to detect the accumulation of calcium salts in the body. However, this symptom does not necessarily indicate lipid proteinase. Calcification is also characteristic of herpes simplex and encephalitis.
A key role in the diagnosis is played bygenetic research. It is this that makes it possible to determine for certain whether there is a mutation in the ECM1 gene, and if so, whether this mutation actually led to Urbach-Vita disease.
Despite the fact that lipoid proteinase was discoveredfor a long time, this rare disease, like most genetic pathologies, can not be cured. However, the latest developments in biochemistry make it possible to alleviate many manifestations of the disease.
So, the positive dynamics was observed atreception "Heparin" and "Dimethylsulfoxide", although not in all cases. Oral administration of small doses of "Dimethyl Sulfoxide" (dimexide), due to the anti-inflammatory properties of the drug, can reduce the dermatotropic manifestations of the disease.
The use of "D-penicilamine" was also successful, but was not widely used. The cases of treatment of patients with "Tigason", which are usually prescribed for psoriasis, are also recorded.
Since the deposition of calcium in the brain tissues can lead to the generation of excessive electrical impulses and epileptic attacks, patients are prescribed anticonvulsants ("Methindione", "Ethosuximide").
Urbach-Vite disease with the right therapy, likethe rule is not dangerous. People suffering from this disease can live a long and fulfilling life. However, do not neglect a regular visit to the doctor. Due to the thickening of the mucosa, in some cases, airway obstruction develops. Such patients require a tracheotomy or a carbon dioxide laser to restore airway patency.
In cases where calcium depositslead to epileptic attacks, it is worth turning to an epileptologist who will choose the appropriate treatment, depending on the severity of the symptoms of the disease.
