Urbach-Vite disease is an extremely rare genetic pathology transmitted by an autosomal recessive type. The cause of the disease is a mutation on the 1st chromosome in the ECM1 gene. In the medical literature there is another name for the disease - lipoid proteinosis.
Discovery story
The first case of the disease, the symptoms of which corresponded to Urbach-Vite disease, was recorded in 1908. He was described by the Swiss professor-otolaryngologist Friedrich Siebenmann. And in 1925, the Swiss histologist and dermatologist Johann Misher described three more such cases.
However, officially this rare recessive genetic disease was registered only in 1929 by dermatologist Urbach and otolaginologist Vita. It was Erich Urbach who called pathology proteinoid lipoid, since he believed that it was associated with an imbalance of lipid and protein deposits in the tissues of the body.
From the moment it was discovered, according to various sources, from three hundred to four hundred cases of this disease around the world.
Symptoms
Among the most common symptoms of the disease is a rash around the eyelids in the form of papules (they are also on the neck and the neck), the patient has a hoarse voice, a decrease in the regenerative ability of the skin, a thickening of the mucous membrane and thickening of the brain tissue in the temporal region. The last symptom is most dangerous, as it can lead to temporal lobe epilepsy.
The disease first manifests itself in childhood (3-7 years). It is then that skin rashes and hoarseness appear.
It is worth noting that these symptoms are ambiguous and can vary greatly in different patients. Since Urbach-Vite disease is transmitted in an autosomal recessive way, it does not manifest itself if there is a normal dominant allele in the genotype. Often people do not even realize that they are carriers of a mutant gene. In some carriers, this rare disease has no symptoms at all. And only if both parents had the gene responsible for lipoid proteinosis, the disease can manifest itself in the offspring.
Diagnostics
Urbach-Vite disease is difficult to diagnose, since its symptoms are not universal. In the case of a rash (papule) on the eyelids, a papular rash on the skin of the neck and forehead, the diagnosis includes a visit to a dermatologist.
If Urbach-Vite disease is suspected, MRI without contrast is prescribed, which allows you to detect the accumulation of calcium salts in the body. However, this symptom does not necessarily indicate a lipoid proteinosis. Calcification is also characteristic of herpes simplex and encephalitis.
A key role in the diagnosis is played by genetic research. It is it that makes it possible to determine for sure whether there is a mutation in the ECM1 gene, and if so, whether this mutation really led to Urbach-Vite disease.
Treatment
Despite the fact that lipoid proteinosis was discovered a long time ago, this rare disease, like most genetic pathologies, is not treatable. However, the latest developments in the field of biochemistry can alleviate many manifestations of the disease.
So, a positive trend was observed with the use of "Heparin" and "Dimethyl sulfoxide", although not in all cases. The 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-penicylamine" was also successful, but was not widely used. Cases of treatment of patients with Tigason, which is usually prescribed for psoriasis, have also been reported.
Since calcium deposition in brain tissues can lead to the generation of excess electrical impulses and epileptic seizures, patients are prescribed anticonvulsants (Metindion, Ethosuximide).
Forecast
Urbach-Vite disease with proper therapy, as a rule, is not dangerous. People suffering from this disease can live a long and fulfilling life. However, regular visits to the doctor should not be neglected. Due to the thickening of the mucous membrane in some cases, obstruction of the airways develops. Such patients require a tracheotomy or the use of a carbon dioxide laser to restore airway patency.
In cases where calcium deposits lead to epileptic seizures, you should consult an epileptologist who will choose the appropriate treatment, depending on the severity of the symptoms of the disease.