What is Bloom syndrome?

Bloom syndrome, like xeroderma pigmentosum, is another disease where our genetic material can become broken. However, in Bloom syndrome, the genetic material can break and rearrange itself many times.

Bloom syndrome is autosomal recessive, meaning that both parents must be carriers for a child to be affected. This means that although the parents do not have the disease, they still have the defective gene and hence can pass it on to their children. If both parents are carriers, there is a 25 % chance that the child will be affected.

The main signs and symptoms of Bloom syndrome include:

  • a reddened “butterfly rash” that extends over the cheeks and bridge of the nose after the patient's first exposure to the sun. Reddened areas can also be seen on other areas which are exposed to the sun, such has hands.
  • a high pitched voice
  • changes in the shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose
  • changes in skin colour – areas may be darker or lighter than normal
  • cafe-au-lait spots, which are flat, demarkated, usually oval, and light to medium brown in colour
  • a weakened immune system (immunodeficiency)
  • dilated blood vessels which can be seen on the skin and sometimes the eyes (telangiectasis)
  • infertility in males and subfertility (meaning that they are less fertile than normal) and premature menopause in women

People suffering from Bloom syndrome also have in increased susceptibility to tumours and cancers. These cancers can be of any type, and usually occur at a much earlier age (the average age for cancer in people with Bloom syndrome is 25 years, most cancers or tumours in unaffected people are rare before the age of 50)

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