Dyskeratosis Congenital

Dyskeratosis is a congenital disease characterized by impaired maturation of the epidermis and dermis. Dyskeratoses can be caused by various factors and can appear in different forms. One of the most common forms of dyskeratosis is congenital dyskeratosis.

Dyskeratosis congenita syndrome is characterized by abnormal development of skin cells, which leads to various symptoms, including slow growth, brittle bones, frequent infections, breathing difficulties and other health problems. One of the main symptoms of dyskeratosis congenita is scurvy, a disease associated with vitamin C deficiency.

Treatment for dyskeratosis can be complex and depends on the specific type of disease. In some cases, skin and other tissue grafts may be used. Medicines such as antibiotics and antivirals may also be used. However, in most cases, treatment of dyskeratosis does not significantly improve the patient's condition.

It is important to note that dyskeratosis is a rare condition and only a small number of people suffer from it. However, if you or someone you love has symptoms of this disease, it is important to see a doctor for diagnosis and treatment.



Congenital dyskeratosis is a hereditary disease characterized by a violation of the formation of keratin and its structural changes. This occurs due to mutations in the genes responsible for the synthesis of proteins necessary for the formation of keratinocytes.

Clinical manifestations of congenital dyskeratosis can be different and depend on the form of the disease. The disease usually appears in early childhood and can progress over several years.

One of the most common manifestations of dyskeratosis is skin lesions, which can appear as spots, plaques, scars and ulcers. Changes in hair, nails and teeth may also occur.

Treatment for dyskeratosis congenita may include various methods such as bone marrow transplant, immunotherapy and the use of medications. However, despite all efforts, the disease usually progresses and leads to the death of the patient.

It is important to note that diagnosis of dyskeratosis congenita requires genetic testing and skin biopsy. This will help determine the form of the disease and choose the most effective treatment method.