Bloom syndrome

What is flowering? syndrome?

Bloom syndrome is a rare inherited condition characterized by:

• Telangiectasias (visible broken blood vessels under the skin) on the face
• Photosensitivity
• Unusually small size at birth
• Greater susceptibility to infections and respiratory diseases.
• Increased susceptibility to cancers of many sites and types.

The condition was first described by dermatologist Dr. David Bloom in 1954 and is also known as congenital telangiectatic erythema.

What Causes Bloom Syndrome and Who Gets It?

Bloom syndrome is a autosomal hereditary recessive disorder, which means that two abnormal Bloom syndrome genes they are necessary for the disease to be apparent (one from each parent). If a person has one affected gene, he or she is called a carrier of Bloom syndrome and does not show symptoms of the disease. If both parents are carriers, there is a 1 in 4 chance of having an affected child with each pregnancy. Recessive diseases are usually consanguineous (eg, cousin marriages).

The gene for Bloom syndrome, BLM, is found in chromosome 15 (the genetic locus is band 15q26.1). Mutations in this gene cause errors in the copying process during DNA replication and result in a greater number of breaks and chromosome rearrangements / sister chromatid exchanges. The result is abnormalities in the RecQL3 protein, leading to the signs and symptoms of Bloom syndrome.

Bloom's syndrome is more common in Ashkenazi Jews from Eastern Europe. At least 1 in 100 Ashkenazi Jews is a carrier of the disease. It seems to be slightly more common in men than women.

What are the signs and symptoms of Bloom syndrome?

Bloom syndrome is apparent from birth and affected newborns are unusually small. Most parents seek medical help when the baby does not grow normally. More than 50%s of children are significantly underdeveloped in physical stature up to age 8 years, and most do not reach 1.5 meters (5 feet) in adulthood.

Other features of Bloom syndrome become apparent as the child grows. These include:

• Skin characteristics
  • Telangiectatic erythema - broken spider veins and reddening of the skin of the face, mainly across the bridge of the nose and the adjacent area of the upper cheek (butterfly distribution)
  • Pigmentation of areas exposed to the sun
  • Cheilitis (swelling of the lips) with crust or bleeding
  • Skin problems are aggravated by sun exposure in many cases (photosensitivity) and their severity ranges from mild to severely disfiguring.
  • There is some improvement with age.
• Characteristics of the skull, face and body.
  • Lack of subcutaneous fat creates a birdlike appearance, with a long narrow face and prominent nose
  • Relatively large protruding ears
  • Long limbs, particularly long arms in proportion to body length
  • Disproportionately large hands and feet
  • A high-pitched voice may be present
• Increased susceptibility to ear, respiratory, and gastrointestinal infections, some of which can be life-threatening.
  • Bloom syndrome patients have decreased immunoglobulin A and M.
• Greater susceptibility to Cancer
  • Patients with Bloom syndrome have an overall risk of 150 to 300 times the risk of developing some type of cancer compared to the general population.
  • At least 20% of patients with Bloom syndrome develop leukemia or solid organ cancer
  • Cancers generally arise unusually early in life, with the diagnosis made at 25 years of age.
  • Skin cancers are common in patients with Bloom syndrome.
• Sterility
  • Men with Bloom syndrome are sterile.
  • Women have reduced fertility and shortened the reproductive period.

What is the treatment for Bloom syndrome?

Because it is a genetic disorder, there is no cure available. Genetic counseling may be appropriate for affected individuals and carriers (their parents and siblings). A genetic test to identify the mutation It is available in some regions.

Treatment is primarily preventive.

• Strict sun protection for life to reduce the risk of skin cancer later in life.
• Patients with Bloom syndrome should be closely monitored for signs of precancerous or cancerous conditions.
• Treatment of short stature with growth hormone should be avoided as it is believed to increase the chance of cancer.
• Radiotherapy and chemotherapy it may be inappropriate due to the risk of serious adverse effects due to the genetic defect.
• Bacterial Infections must be treated immediately with antibiotics.

What is the result of Bloom syndrome?

Death often occurs in the second or third decade, commonly from cancer.