Bloom syndrome is a genetic disorder characterised by short height and increased sensitivity to sun exposure. It is also a sign of a greatly increased risk of cancer. People with Bloom syndrome are usually smaller in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. Due to sensitive skin, the affected people develop a butterfly-shaped patch of reddened skin across the nose and cheeks in sunlight. A skin rash can also develop on other areas exposed to the sun. They can also develop nay type of cancer earlier in life. Affected infants and children are usually seen with a distinctive, narrow, small head and face.
HOW IS BLOOM SYNDROME DIAGNOSED?
The diagnosis of this syndrome is established in a proband with identification of biallelic pathogenic variants in BLM on molecular genetic testing. If molecular genetic testing is inconclusive, it is diagnosed with identification of increased frequency of sister-chromatid exchanges (SCEs) on specialised cytogenetic studies. Molecular testing can include single-gene testing, use of a multi-gene panel, and more comprehensive genomic testing.
HOW IS BLOOM SYNDROME TREATED?
The treatment of Bloom syndrome depends on the symptoms.
* Affected people may use good sunscreens avoid contact with direct sunlight.
*Periodic evaluation by a dermatologist is recommended.
*Infections may be treated with antibiotic drugs.
*Genetic counseling is also beneficial.
DID YOU KNOW?
These patients are also usually closely monitored and kept under observation to check the onset of cancer.