Bloom Syndrome

Definition

Definition of Bloom Syndrome
Bloom syndrome is an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems.

People with Bloom syndrome have low birth weight and length. They remain much shorter and thinner than others in their family, growing to an adult height of less than 5 feet. Affected individuals usually develop dilated blood vessels and reddening in the skin, particularly in response to sun exposure. These changes typically appear as a butterfly-shaped patch of reddened skin across the nose and cheeks. The skin changes may also affect the hands and arms.

People with Bloom syndrome have an increased risk of cancer. They can develop any of the cancers found in the general population, but the cancers arise unusually early in life, and affected individuals often develop more than one type of cancer.
Individuals with this disorder often have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; a large nose; and prominent ears. Other features affecting some people with Bloom syndrome include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm, and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause earlier than usual.

Symptoms

Symptoms of Bloom Syndrome
Bloom syndrome is apparent from birth with affected newborns being unusually small. Most parents seek medical help when the infant does not grow normally. Over 50% of children are significantly underdeveloped in physical stature until age 8 years, and most fail to reach 1.5 metres (5 feet) in adulthood.

Causes

Causes of Bloom Syndrome
Bloom syndrome is an autosomal recessive inherited disorder, which means that two abnormal Bloom's syndrome genes are needed 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 manifest symptoms of the disease. If both parents are carriers, there is a 1 in 4 chance of having an affected child with each pregnancy.

The gene for Bloom syndrome is located on chromosome 15 (gene locus is band 15q26.1). Mutations in this gene cause errors in the copying process during DNA replication and result in a higher number of chromosome breakages and rearrangements. This leads to the signs and symptoms of Bloom syndrome.

Bloom syndrome is more common in eastern European Ashkenazi Jews. At least 1 in 100 Ashkenazi Jews is a carrier of the disease. It appears to be slightly more common in males than females.

Diagnosis

Diagnosis of Bloom Syndrome
Consult with your doctor.

Treatment

Treatment of Bloom Syndrome
There are no treatments for the underlying cause of Bloom's syndrome, and therefore medical intervention is primarily preventative. Adults with Bloom's syndrome should be more cautious and atentive than others in their surveillance for cancer. It is recommended that people afflicted by this disease maintain a close contact with a physician familiar with Bloom's. This way, with the doctor's assistance, pay attention to in case of an emergence of symptoms that may signal or show a treatable pre-cancerous condition. Bloom syndrome has no specific treatment for it; however, avoiding sun exposure and using sunscreens can help individuals avoid some of the cutaneous changes associated with photosensitivity. Efforts to minimize exposure to other known environmental mutagens are also recommended.

Prognosis

Prognosis of Bloom Syndrome
Consult with your doctor.

Prevention

Prevention of Bloom Syndrome
Treatment is primarily preventative. Patients with Bloom syndrome should be monitored closely for signs of precancerous or cancerous conditions. Bacterial infections should be treated promptly with antibiotics.