Bloom's syndrome is a rare congenital disease in which human cells exhibit genomic instability. It is inherited in an autosomal recessive manner.
The violation was first diagnosed and described in 1954 by a dermatologist of American origin David Bloom. On behalf of this scientist, the name of pathology occurred. A synonym is congenital telangiectatic erythema.
Most often, Bloom syndrome affects people of Jewish nationality (approximately 1 in 100 people). The disease can be both in women and in men, but in the latter the symptoms are more pronounced. That is why women with this pathology often make erroneous diagnoses.
In a child who suffers from Bloom's syndrome, both parents are hidden carriers of the mutation in one allele of the BLM gene. It is suggested that the variety of symptoms depends on which particular mutation is present in the patient's genes. However, this has not yet been proven.
Clinical picture
Patients with Bloom syndrome at birth have a small body weight (about 1900-2000 g). In the future, they also grow slowly and gain weight poorly. Puberty is delayed, and even if it passes, it is inferior. Infertility is common in men and abnormally early menopause in women. Despite this, their mental development corresponds to age norms.
In the first weeks of life in patients on the cheeks, ears, nose and back of the hands there are bubbles, erythema and crusts. Often there is an increased sensitivity to ultraviolet light. Even a short exposure of patients to the sun can lead to the formation of a vascular network and damage to the skin of varying severity. After the restoration of the irradiated skin, dark or too light spots may form on it, areas with atrophy.
Patients have reduced immunity and therefore often face infectious diseases, which also recur.
Bloom's syndrome is often combined with asymmetry of the necks of the femur bones and congenital heart defects.
Appearance
The appearance of patients is non-standard. They have a fairly narrow skull, a small chin and a protruding nose (“bird face”). This is especially evident when you look at a photo of Bloom's syndrome.
Patients, as a rule, are short, have a high voice. Some patients have foot deformities and tooth abnormalities. Patients often complain of inflammation and swelling of the lips, their peeling. In some cases, there is a violation of the process of keratinization of the skin and its blockage (looks like "goosebumps").
Diagnostics
The diagnosis of "Bloom syndrome" is made by the doctor, based on the clinical picture of the patient’s disease and the results of laboratory tests.
During the examination, an assessment of the state of the immune system is mandatory. In the analysis of patients with Bloom syndrome, a decrease in the number of immunoglobulins and T-lymphocytes will be noted. In addition, it is recommended to evaluate sister chromatid exchanges.
When diagnosing, it is important not to confuse Bloom syndrome with lupus erythematosus, Neal-Dingwall syndrome, Rotmund-Thomson syndrome and cutaneous porphyria.
Oncology
Low immunity and the presence of a large number of different mutations lead to the fact that the patient sharply increases the likelihood of oncology. At the same time, both internal organs and blood, lymph, bone tissue can suffer.
The most common pathologies that occur in this category of patients include:
- myeloid leukemia;
- lymphoma
- lymphocytic leukemia;
- malignant tumors of the esophagus, tongue and intestines;
- lungs' cancer;
- breast carcinoma.
Much less often they are diagnosed with medulloblastoma and kidney cancer.
Treatment
A patient suffering from Bloom syndrome, the treatment will be symptomatic. Reducing the severity of unpleasant phenomena can be achieved with the help of medications and medical procedures. Their choice is made by the attending physician on the basis of what symptoms disturb the patient. So, with oncology, chemotherapy, radiation therapy or surgery may be required, with dental diseases - dental procedures, etc. It is currently impossible to completely recover from the pathology.
In any case, patients should regularly use products that reliably protect the skin from ultraviolet radiation, use vitamin-mineral complexes (they should include vitamin E), carotenoids (both in the form of food additives and with food products) and medications that correct the work the immune system. In some cases, hormone therapy is possible.
Patients with Bloom's syndrome should be observed by a dermatologist and oncologist throughout their lives to know the first signs of skin cancer. For any suspicious changes, they need to see a doctor as soon as possible.
It is useful for patients who have many birthmarks on their bodies to be in the shade and avoid direct sunlight, to wear clothes that hide the body as much as possible.
Forecast
The prognosis of patients with Bloom syndrome directly depends on what pathological conditions accompany them. Most often, patients die as a result of acute oncological processes or pneumonia.
It is worth noting that patients who undergo symptomatic treatment and are under the supervision of a doctor have a longer life expectancy compared to those patients who do not.
Prevention
Prevention of Bloom's syndrome in children will be to avoid marriages with close relatives. It is among peoples whose traditions are closely related marriages that the disease finds the most frequent distribution.
In addition, it is recommended that a young couple undergo a thorough medical examination before conception.