Congenital telangiectatic erythema( bloom syndrome)
Mar 23, 2018
This hereditary disease is transmitted by an autosomal recessive type. It is manifested by increased sensitivity to sunlight, expressed by reddening on the face, which is associated with the expansion of the blood vessels of the skin. Children suffering from this disease have low birth weight, slow growth, an increased risk of developing blood cancer and other malignant diseases. In such cases, in most cases, there are various disorders of the immune system.
Bloom Syndrome is found in representatives of different races, but especially among Ashkenazi Jews. One of the earliest manifestations of the disease is an increased sensitivity to sunlight, as a result of which, in the first months of life, skin lesions develop in the face, especially on the nose and adjacent areas of the cheeks, ears and the back surface of the hands. In some cases, even bruising can form. Over time, redness becomes permanent, there are noticeable eye enlargement of the blood vessels of the skin. Skin and scars can form on the skin. After a certain period of time, the baby's skin becomes thinner, and foci of a darker color appear. Children are born with low body weight, lag behind in growth. The appearance of children with such a syndrome is typical: a narrow face, a large nose, small cheekbones. In some cases, there may be other small anomalies of development. Children often suffer from various infections of the upper respiratory tract and gastrointestinal tract. Mental development usually does not suffer. Sexual development also does not differ from healthy children, although boys often have underdevelopment of the testicles. The course of the disease is chronic. The prognosis is unfavorable, which is explained by the high risk of developing blood cancer or other malignant neoplasms. The average age at which malignant tumors are detected is 25 years. At the same time, several tumors located in different organs and tissues can be detected simultaneously.
It is recommended to take antioxidants( vitamins C, E, etc.), sunscreens( various creams and lotions), with the development of infection - antibiotics, in case of immunity disorders - immunostimulating drugs( immunal, echinacea, etc.)).It is necessary to avoid the influence of factors that can cause the development of tumors. Such factors include, first of all, ionizing radiation, solar radiation, smoking, contact with various chemical substances( salts of heavy metals, etc.), exposure to low or high temperatures, and many others.