Bloom's syndrome is a rare congenital disorder in which human cells exhibit genomic instability. It is inherited in an autosomal recessive manner.
The disorder was first diagnosed and described in 1954 by American-born dermatologist David Bloom. On behalf of this scientist, the name of pathology came about. Synonym - congenital telangiectatic erythema.
Most often, Bloom's syndrome affects persons of Jewish nationality (approximately 1 person out of 100). 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 are often misdiagnosed.
In a child who has Bloom's syndrome, both parents are latent carriers of a mutation in one allele of the BLM gene. It is assumed that the variety of symptoms depends on which mutation is present in the genes of the patient. However, this has not yet been proven.
Clinical picture
Patients with Bloom's syndrome are small at birth (about 1900-2000 g). In the future, they also grow slowly and gain weight poorly. Puberty is delayed, and even ifit passes, it is defective. 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, blisters, erythema and crusts appear on the cheeks, ears, nose and back of the hands. Often there is an increased sensitivity to ultraviolet light. Even a short stay of patients under the sun can lead to the formation of a vascular network and damage to the skin of varying severity. After restoration of the irradiated skin, dark or too light spots, areas with atrophy may form on it.
Patients have reduced immunity and therefore often encounter 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 rather narrow skull, a small chin and a protruding nose ("bird face"). This is especially evident if you look at the photo of Bloom's syndrome.
Patients are usually short in stature, have a high voice. Some patients present with foot deformities and dental anomalies. 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").
Diagnosis
The diagnosis of "Bloom's syndrome" is made by the doctor, based on the clinical picture of the patient's illnessand lab data.
During the examination, an assessment of the state of the immune system is mandatory. In the analysis of patients with Bloom's syndrome, there will be a decrease in the number of immunoglobulins and T-lymphocytes. In addition, an assessment of sister chromatid exchanges is recommended.
When diagnosing, it is important not to confuse Bloom's syndrome with lupus erythematosus, Neil-Dingwall syndrome, Rothmund-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 has a sharp increase in the likelihood of oncology. In this case, both internal organs and blood, lymph, and 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;
- lung cancer;
- breast carcinoma.
Medulloblastoma and kidney cancer are much less common.
Treatment
A patient suffering from Bloom's syndrome will be treated symptomatically. Reducing the severity of unpleasant phenomena can be achieved with the help of medications and medical procedures. Their choice is carried out by the attending physician based on what symptoms disturb the patient. So, with oncology, chemotherapy, radiation therapy or surgery may be required, with dental diseases - dentalprocedures, etc. It is currently impossible to completely cure 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 supplements and with food) and drugs that correct the functioning of the immune system. In some cases, hormone therapy is possible.
Patients who have 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.
Patients who have a lot of birthmarks on their bodies, it is useful to be in the shade and avoid direct sunlight, wear clothing that hides the body as much as possible.
Forecast
The prognosis of patients with Bloom's 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 receive symptomatic treatment and are under medical supervision have a longer life expectancy compared to those patients who do not.
Prevention
Prevention of Bloom's syndrome in children will consist in avoiding marriages with close relatives. It is among peoples whose traditions are closely related marriages that the disease finds the most frequentdistribution.
In addition, a young couple is advised to undergo a thorough medical examination before conception.
