McCune-Albright syndrome is a genetic disease that affects skin coloration and bone tissue development. It can cause gigantism, premature menstruation, body hair growth, and broken bones. Symptoms include café-au-lait spots, scar tissue, and nerve pressure. There is no cure, but treatments can manage symptoms. The disease is not inherited and severity varies.
McCune-Albright syndrome is a disease with a genetic basis. This health condition can impact the coloration of the skin, as well as negatively impact the proper development of bone tissue. In extreme cases, McCune-Albright syndrome can trigger the onset of gigantism, a condition in which the skeletal structure grows beyond what is considered a normal range.
While the disease tends to be associated with females and is often cited as the reason for the occurrence of premature menstruation in girls, McCune-Albright syndrome can also occur in males. In either case, young men of both sexes may experience the early appearance of body hair, particularly in the axillary and pubic areas. Girls can start developing breasts before they reach the age of ten. Both boys and girls will be more susceptible to broken bones.
There are several symptoms associated with having McCune-Albright syndrome. The most common is the appearance of spots on the skin. These spots are usually irregular in shape and tend to appear in patches on the back, although they can appear in other areas. Known as café-au-lait spots, the spots can cause mild discomfort, though they rarely become painful.
Other common symptoms of McCune-Albright syndrome include the development of scar tissue on the skeletal structure. The buildup of extra tissue on the bones can press against nerve endings and cause a lot of pain. Pressure on the nervous system can affect vision. If left untreated, it can cause blindness. Similarly, abnormal bone growth can cause hearing problems, up to complete deafness.
At present, there is no known cure for McCune-Albright syndrome. Treatments are usually directed at managing the conditions created by the disease. For example, the use of medications that are intended to correct an estrogen imbalance in the body, such as testosterone, often prove effective in holding back premature development.
McCune-Albright syndrome is not a communicable disease. There appears to be no evidence that the disease is inherited from previous generations in the family line. Most medical professionals agree that the development of the disease is a sporadic event that occurs in utero when a mutation of the GNAS1 gene occurs. The mutation will be present in a number of cells in the body and will trigger various symptoms of the disease.
Not all people who have McCune-Albright syndrome will experience the full range of symptoms. Even in the context of the symptoms that occur, the severity can range from mild to pronounced. Doctors are often able to work with the patient and identify ways to manage the condition so that the sufferer has a very good chance of living a normal, healthy life.
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