McCune-Albright
Syndrome is a
disease which affects the
bones and
skin. It also causes
premature sexual development of its sufferers. It is also known as polyostotic fibrous dysplasia or Albright Syndrome.
Symptoms
- Cafe-au-lait spots
These are flat areas on the skin which have the colour of a milky coffee. In darker-skinned children, these spots are harder to see, and in these cases McCune-Albright Syndrome (MAS) is harder to diagnose.
The spots are present from birth and usually don't grow after that time. They are commonly found around the spine or abdomen.
The spots themselves cause no physical or medical problems for MAS sufferers.
- Premature puberty
This includes:
Premature puberty is also called "precocious puberty", and it occurs when the hormones which control the ovaries or testes kick in before 8 years of age in girls and 9 1/2 year in boys.
In girls with MAS, oestrogen is pumped through the body through the bloodstream by ovarian cysts. The resulting menstrual bleeding and enlarged breasts which occur before 2 years of age is the first symptom of the disease in 85% of sufferers.
- Bone weakness and breakages
In sufferers of "polyostotic fibrous dysplasia" normal bone is replaced by huge amounts of weaker bone. As a result, when this happens in weight-bearing bones, like legs, limping, deformity and breakages occur.
MAS patients will experience varying degrees of bone disease. Some may not be affected at all while others can be permanantly disabled.
Treatment
According to
www.nlm.nih.gov/medlineplus, "there is not a specific
treatment for McCune-Albright Syndrome.
Drugs that inhibit oestrogen production, such as
testolactone, have been tried with some success".
Hormone treatment may be given to premature puberty patients, and can be highly successful in delaying or even reversing existing puberty symptoms.
Patients who suffer from bone weakness can be treated by
bone grafting, pinning and
casting, but there are no hormonal or medical treatments which can make the bone stronger.
Cause and prevention
The cause of MAS is unknown and, as such, there are no preventative measures which can be taken. Some tests indicate that a morphing of
DNA results in MSA, but this has yet to be thoroughly investigated.
Other facts on McCune-Albright Syndrome
- MSA was named after the two doctors who discovered it 50 years ago (obviously named McCune and Albright)
- The newest case in Australia is that of a female baby. She first had "spotting" (periods) at the age of 4 months, and started growing breasts at 5 months. She is now on a hormone treatment and looks "normal"
- MAS children are often very fast to learn to walk. They can start crawling at 2 months and holding their head up at just a few days old.
Information from www.nlm.nih.gov and www.magicfoundation.org