Rare genetic skin diseases – epidermolysis bullosa (EB) and ichthyosis – have many subtypes, and making an accurate diagnosis is critically important for determining treatment tactics, predicting the development of the disease and preventing complications.
With EB, the skin is characterized by increased vulnerability, and with ichthyosis, the process of keratinization of the skin is disrupted, it cannot retain moisture, which is why it constantly flakes, cracks and itches.
EB has four main types, and ichthyosis has more than 30. Mutations in more than 50 genes are associated with various forms of the disease. A DNA test helps to find these "broken" genes.
Genetic research makes it possible to clarify the diagnosis and subtype of the disease, prescribe personalized treatment, predict the course of the disease and participate in experimental treatment selection programs.
Currently, 8 wards of the Butterfly Children Foundation need genetic research. Among them is 4–month-old Irsana with epidermolysis bullosa. DNA analysis will help to adjust treatment tactics and alleviate her condition.
Help children receive personalized treatment and improve the prognosis of rare diseases!
Verified by Tooba
Verified by Tooba
