What is McCune Albright

McCune Albright is a rare genetic disorder that affects multiple systems in the body. It is characterized by a triad of symptoms including polyostotic fibrous dysplasia, café-au-lait spots (pigmented skin patches), and endocrine abnormalities.

Polyostotic fibrous dysplasia refers to the presence of abnormal bone growth, leading to weakened bones that are prone to fractures. This condition can affect various bones in the body, causing pain, deformities, and an increased risk of fractures.

Café-au-lait spots are flat, light brown patches on the skin. These spots are usually present from birth and can vary in size and number. While they are not harmful themselves, their presence is a key diagnostic feature of McCune Albright.

Endocrine abnormalities associated with McCune Albright can include early puberty (precocious puberty), hormonal imbalances, and overactive glands. These abnormalities can lead to a range of symptoms such as accelerated growth, menstrual irregularities, and thyroid problems.

McCune Albright is caused by a mutation in the GNAS gene, which leads to the overactivation of certain signaling pathways in affected cells. The condition is typically diagnosed based on clinical features and confirmed through genetic testing.

Treatment for McCune Albright focuses on managing the specific symptoms and complications that arise. This may involve medications, surgeries to address bone abnormalities, and hormonal therapies to regulate endocrine function.