Bloom Syndrome: Causes, Symptoms and Treatment

Bloom syndrome is a rare congenital disease in which human cells demonstrate genomic instability. It is inherited by autosomal recessive type.

The disorder was first diagnosed and described in 1954 by a dermatologist of American origin, David Bloom. On behalf of this scientist, the name of pathology has occurred. A synonym is congenital telangiectatic erythema.

The most common syndrome of Bloom affects people of Jewish nationality( approximately 1 person out of 100).The disease can be both in women and men, but the latter symptoms are more pronounced. That's why women with this pathology often make mistaken diagnoses.

In a child who is ill with Bloom's syndrome, both parents are the hidden carriers of the mutation from one allele of the BLM gene. It is assumed that the variety of symptoms depends on what kind of mutation is present in the patient's genes. However, this has not yet been proved.

Clinical picture of

Patients with Bloom syndrome at birth have a small body weight( about 1900-2000 g).In the future they also grow slowly and do not add weight. Sexual maturation is delayed, and even if it passes, it is inferior. In men, infertility is often met, and in women - anomalously early menopause. Despite this, their mental development corresponds to the age norms.

In the first weeks of life, the patients on the cheeks, ears, nose and back of the hands have blisters, erythema and cortex. Often there is an increased sensitivity to ultraviolet radiation. 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 the restoration of the irradiated skin, dark or too light spots, areas with atrophy can form on it.

Patients with reduced immunity and therefore often face infectious diseases, which also recur.

Bloom syndrome is often combined with the asymmetry of the necks of the hip bones and congenital heart defects.

Appearance

Appearance of patients non-standard. They have a narrow skull, a small chin and a prominent nose( "bird's face").This is especially clear if you look at the photo of Bloom's syndrome.

Patients, usually of low height, have a high voice. In some patients, foot deformities and tooth anomalies are present. 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 goosebump).

Diagnosis

The diagnosis "Bloom's syndrome" is made by the doctor, based on the clinical picture of the patient's illness and the results of laboratory research.

The evaluation 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, it is recommended to evaluate the sister chromatid exchanges.

In diagnosis, it is important not to confuse Bloom syndrome with lupus erythematosus, Nile-Dingwall syndrome, Rothmund-Thomson syndrome and skin porphyria.

Oncology

Low immunity and the presence of a large number of different mutations lead to a sharp increase in the likelihood of oncology. Suffering at the same time can both internal organs, and blood, lymph, bone tissue.

The most common pathologies that arise in this category of patients include:

• myeloid leukemia;
• lymphoma;
• lymphatic leukemia;
• malignant tumors of the esophagus, tongue and intestines;
• lung cancer;
• carcinoma of the mammary glands.

Much less often they are diagnosed with medulloblastoma and kidney cancer.

Treatment of

Patient with Bloom syndrome, the treatment will be symptomatic. Reduction in the severity of unpleasant phenomena can be achieved with the help of medicines and medical procedures. Their choice is carried out by the attending physician proceeding from what symptoms disturb the patient. So, oncology may require chemotherapy, radiation therapy or surgery, with dental diseases - dental procedures, etc. Cure completely from the pathology at this time is impossible.

In any case, patients should regularly use products that reliably protect the skin from ultraviolet radiation, use vitamin-mineral complexes( they must include vitamin E), carotenoids( both in the form of food additives and with food) and drugs that correctthe work of the immune system. In some cases, hormonal therapy is possible.

Patients with Bloom syndrome should be observed throughout their lives in a dermatologist and oncologist, to know the first signs of skin cancer. In case of any suspicious changes, they need to see a doctor in the shortest possible time.

Patients with many birthmarks on the body, it is useful to be in the shade and avoid direct sunlight, wear the most hidden clothing.

Forecast of

The prognosis of patients with Bloom's syndrome directly depends on which pathological conditions they are accompanying. Most often, patients die as a result of acute oncological processes or pneumonia.

It should be noted that patients who undergo symptomatic treatment and are under the supervision of a doctor have a longer life expectancy compared to those who do not.

Prevention of

Prophylaxis of Bloom's syndrome in children will consist in avoiding marriages with close relatives. It is precisely among peoples, in the traditions of which closely related marriages, the disease finds the most frequent spread.

In addition, a young couple before conception is recommended to undergo a thorough medical examination.