It is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer and genomic instability. The symptoms are:
1. Short stature and a rash on the face that develops early in life when exposed to the sun
2. The rash will develop on any other sun exposed areas including the backs of hands and neck
3. High pitched voice
4. Distinct facial features including a long narrow face and prominent nose and ears
5. Pigmentation changes in the skin
HOW IS BLOOM SYNDROME DIAGNOSED?
Blooms syndrome can be diagnosed by any one of these genetic tests:
• Testing cultured lymphocytes for presence of quadriradial
• Testing cells for presence of sister chromatoid exchange
• Mutation of BLM gene
HOW IS BLOOM SYNDROME TREATED?
There is no treatment for Bloom syndrome and it can be only by symptomatic and supportive ways. Sunscreens are prescribed by the dermatogists and are advised to avoid direct contact with sunlight. Infections may be treated aggressively with antibiotic drugs. Physicians are consulted for any indications of cancer, especially with patients who reach adulthood.
DID YOU KNOW?
Men with Bloom syndrome are sterile, while women are reportedly less fertile and have a short reproductive span.