What is Albright syndrome?
Albright syndrome, also known as McCune-Albright syndrome (MAS), is a rare genetic multisystem disorder characterized by (1) replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); (2) patches of abnormal skin pigmentation; abnormalities in the glands that regulate the body’s rate of growth, its sexual development, and certain other metabolic functions (multiple endocrine dysfunction).
Depending on the number and location of the skeletal abnormalities, mobility may be impaired, as well as vision and/or hearing and the individual may experience substantial pain. Malfunctioning endocrine glands can result in the development of secondary sexual characteristics at an age younger than normal (precocious puberty).
Possible complications may include:
- Cosmetic problems from bone abnormalities
- Osteitis fibrosa cystica
- Premature puberty
- Repeated broken bones
- Tumors of the bone (rare)
How common is Albright syndrome?
Albright syndrome can affect patients at any age. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.
What are the symptoms of Albright syndrome?
The parts of the body most commonly affected by MAS are the bone, skin and endocrine system. The range of severity of McCune-Albright syndrome is broad: some children are diagnosed in early infancy with obvious anomalies of bone and increased hormone production by one or more of the endocrine glands; others show no evidence of bone, skin or endocrine malfunction in childhood and may enter puberty at an appropriate age. The degree of severity of individual symptoms may also vary greatly. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below and that every individual case is unique. Parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis.
The hallmark symptom of McCune-Albright syndrome is early puberty in girls. Menstrual periods may begin in early childhood, long before the breasts or pubic hair develop (which normally occur first). Puberty and menstrual bleeding may begin as early as 4 to 6 months in girls. Early sexual development may also occur in boys, but not as often as in girls. Other symptoms include:
- Bone fractures
- Deformities of the bones in the face
- Irregular, large patchy cafe-au-lait spots, especially on the back
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Albright syndrome?
McCune-Albright syndrome is caused by a mutation in a gene called GNAS1 that occurs randomly, for no apparent reason (sporadic). This gene mutation occurs after fertilization of the embryo (somatic mutation) and is therefore not inherited, nor will affected individuals pass the mutation on to their children. Affected individuals have some cells with a normal copy of this gene and some cells with the abnormal gene (mosaic pattern).
The variability of symptoms of MAS is due, in part, to the ratio of healthy cells to abnormal cells. Researchers do not know why these somatic mutations occur; they appear to develop randomly for unknown reasons.
What increases my risk for Albright syndrome?
Albright syndrome is an inherited genetic condition. The affected individuals demonstrate significant family history, which is a risk factor for this condition to develop.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Albright syndrome diagnosed?
The diagnosis of McCune-Albright syndrome may be suspected at birth based upon identification of the characteristic skin pigmentations (cafe-au-lait spots). However, in many cases, the disorder may not be suspected until late infancy or childhood when precocious puberty develops or when bone deformities become obvious. A diagnosis may be confirmed based upon characteristic physical findings (i.e., association of characteristic skin, bone, and endocrine abnormalities), a detailed patient history, thorough clinical evaluation, and specialized tests including x-ray studies and blood tests.
A physical examination may show signs of:
- Abnormal bone growth in the skull
- Abnormal heart rhythms (arrhythmias)
- Large cafe-au-lait spots on the skin
- Liver disease, jaundice, fatty liver
- Scar-like tissue in the bone (fibrous dysplasia)
Tests may show too much:
- Adrenal abnormalities
- Too little parathyroid hormone (hyperparathyroidism)
- Too much thyroid hormone (hyperthyroidism)
- Adrenal hormone abnormalities
- Low level of phosphorous in the blood (hypophosphatemia)
- Ovarian cysts
- Pituitary or thyroid tumors
- Abnormal blood prolactin level
- Abnormal growth hormone level
Other tests that may be done include:
- MRI of the head
- X-rays of the bones
- Genetic testing is available for the GNAS1 gene.
How is Albright syndrome treated?
There is no specific treatment for McCune-Albright syndrome. Drugs that block estrogen production, such as testolactone, have been tried with some success.
Adrenal abnormalities (such as Cushing syndrome) may be treated with surgery to remove the adrenal glands. Gigantism and pituitary adenoma will need to be treated with medicines that block hormone production, or with surgery.
Bone abnormalities (fibrous dysplasia) are sometimes removed with surgery.
Limit the number of x-rays taken of affected areas of the body.
Lifestyle changes & Home remedies
What are some lifestyle changes or home remedies that can help me manage Albright syndrome?
The following lifestyles and home remedies might help you cope with Albright syndrome:
- If the exercises are specially designed to strengthen the muscles surrounding fibrous dysplasia it may help to reduce the risk of fracture.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
- McCune Albright Syndrome. https://rarediseases.org/rare-diseases/mccune-albright-syndrome/. Accessed 5 Jun 2017
- McCune Albright Syndrome. http://www.webmd.com/children/mccune-albright-syndrome. Accessed 5 Jun 2917
- McCune-Albright syndrome. https://medlineplus.gov/ency/article/001217.htm. Accessed 5 Jun 2017
Review Date: June 26, 2017 | Last Modified: September 12, 2019