Engman-Cole Congenital Dyskeratosis

Engman-Cole dyskeratosis congenita is a rare hereditary skin disease characterized by the appearance of multiple warty growths along the lymphatic vessels.

The disease is named after American dermatologists Morton F. Engman and Howard P. Cole, who first described this rare condition in 1926.

In Angman-Cole dyskeratosis, abnormal growth of keratinocytes occurs along the lymphatic vessels, which leads to the formation of multiple warty growths on the skin. The areas mainly affected are the neck, shoulders, back and chest. The growths have a linear shape and follow the course of the lymphatic vessels.

The disease usually appears in childhood or adolescence. The course is chronic, growths can gradually increase in size and number.

Angman Cole dyskeratosis is inherited in an autosomal dominant manner and is caused by mutations in the KRT6A, KRT6B or KRT6C genes.

Differential diagnosis is carried out with other forms of congenital ichthyosis, pilonidal disease, neurofibromatosis and other conditions manifested by the formation of growths on the skin.

Treatment for Angman-Cole dyskeratosis involves surgical removal of the growths. Plastic surgeries are performed to correct cosmetic defects. Retinoids may be used to slow the progression of the disease.

Engman-Cole dyskeratosis congenita is a rare genetic disease that appears in early childhood and is characterized by the appearance of spots and nodules on the skin. It occurs as a result of a mutation in the gene that is responsible for the production of a protein necessary for normal skin development.

The disease appears as red or pink spots on the skin, which may be covered with white or yellowish scales. These spots can come in a variety of sizes and shapes, and they can appear on any part of the body, including the face, arms, legs, and back.

One of the most common symptoms is the appearance of nodules on the skin that look like small bumps or bumps. They can be painful and may cause discomfort to patients.

Treatment of the disease can be complex and depends on its severity. In some cases, surgical removal of the nodules may be necessary, as well as medications to reduce inflammation and improve skin condition.

However, despite best efforts, some patients may experience relapses of the disease. Therefore, it is important to monitor the condition of your skin and consult a doctor if any unusual symptoms appear.