Marshev's disease is a rare genetic disease that is characterized by irreversible loss of hair on the skin of the face, arms and legs. The disease can manifest itself both in early childhood and adolescence, but is most often diagnosed in adults.
**Pathogenesis:** Marshev's disease belongs to the group of immunodeficiencies and is a degenerative-dystrophic process. As a result of a disorder in the metabolism of the WNT protein, which plays an important role in the formation of hairs on the skin, the hair follicles stop producing hair and they fall off. Lack of growth of hair follicles leads to the fact that the skin loses its natural cover.
Marshev's disease is associated with certain genes that are inherited autosomal dominantly, mutations in which lead to impaired Wnt protein metabolism. These genes encode proteins that help hair follicles grow. Therefore, the development of Marshev's disease may be associated with a disruption in the production of the hairy protein or the WNT-1 receptor. Genetic research has shown that one form of the disease, called epidermal cell atrophy and hypomelasma (ATOH7), can be explained by genetic changes in the CBLB gene that may cause the disease. For other forms, genetic studies have not yet shown a relationship between a specific genetic mutation and the development of the disease.
Symptoms and manifestations of Marchevo's disease usually appear in children, but their origin is uncertain. Many people do not have any symptoms of the disease until