Albright Syndrome

Question: McCune Albright Syndrome? My daughter may possibly have McCune Albright Syndrome and Im wondering if anyone has any experience with it. She has some cafe-au-lait spots, but thats the only symptom. No endocrine problems, no lesions on the bones....I was just wondering if the other symptoms can present at a later time. She is only 5. She sees an endocronologist every 6 mo and a geneticist every year. Most people who are reading this probably have no idea what this desease is, but for those who have a child with it, I just want to know how the symptoms presented in your case. Any input would be appreciated

Answer: Hi there: Yes, I have a son with McCune Albright Syndrome. He is almost 14 now and we first noticed something wrong at around 6, but it wasn't actually diagnosed for another year and a half. The first symptom we noticed was that one testicle was much larger than the other, so obviously not a symptom your daughter would share :) However, in talking with the doctor, we realized that he also had probably had cherubism as a baby, but we had missed it. I have talked with many people who have this or who have children with it and there seems to be little that is "normal". I've been told that it's very unlikely that he will develop more bones lesions (yes, he has FD) than he currently has and that they don't develop past teenage years, but I've talked with people who say that their lesions continue to get worse and they get more of them, even though they are middle age adults. My son also had precocious puberty, which was kept in check with medication until it was a more appropriate time for him to enter full-on puberty. He did not have cafe au lait spots, nor does he now. He also had accelerating bone age, so that his bone age was 3 1/2 years more advanced than his chronological age. This also was halted with the medication, although it couldn't be reversed. We have never seen a geneticist, since I was told that this is a genetic mutation that they believe happens when the mom is pregnant and that it cannot be passed on to offspring or would not have shown up in other family members. Having said that, however, doctors have been extremely interested in an extensive family history and in his siblings. Although he has quite a lot of bone disease, he has never broken anything, which has the doctors floored. I say it's because we give him organic milk :) The people who seem to know the most about this are at NIH (National Institute of Health) in Bethesda, Maryland. Because it's so rare, no drug companies do research, as it wouldn't be profitable. But our government does! And, if your daughter were to go there for treatment, they check EVERYTHING and it doesn't cost anything becasue the government pays for it. If you go to the website below and click on "all related clinical trials", there is one for a screening and natural history, which basically means they just check her out thoroughly and decide with you if anything further needs to be done. I don't know if you live close enough that it would be easy to get there, but I really recommend writing to them. Also on that site is a link to the MAGIC Foundation, which might be helpful. I hope this has helped some and good luck!

Question: Do any other woman have "Albright Syndrome" besides myself? What do you do when symptoms apear? What do you know about this syndrome?

Answer: McCune-Albright Syndrome (MAS) is a rare multisystem disorder characterized by (1) replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); (2) patches of abnormal skin pigmentation (i.e., areas of light-brown skin [cafe-au-lait spots] with jagged borders); 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). McCune-Albright Syndrome is the result of a genetic change (mutation) that occurs randomly, for no apparent reason (sporadic). In individuals with the disorder, this sporadic genetic mutation is present in only some of the body's cells (mosaic pattern). The symptoms and physical characteristics associated with the disorder vary greatly from case to case, depending upon the specific body cells and tissues that are affected by the genetic mutation. This mutation occurs after fertilization (postzygotic somatic mutation). It is not inherited from the parents. The range of severity of the disorder is very 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 Here is a good sorce to get information: McCune-Albright Syndrome/Fibryous Dysplasia Division International network. Founded 1990. Provides support for families of McCune Albright syndrome patients. Newsletters, updated medical information, phone support, annual conventions. Dues $30/yr. WRITE: MAGIC Foundation 6645 West North Ave. Oak Park, IL 60302 CALL: 1-800-362-4423 FAX: 708-383-0899 E-MAIL: mary@magicfoundation.org WEBSITE: http://www.magicfoundation.org

Question: Do you have information on McCune-Albright Syndrome? ? I have a friend who was recently told her 4 year old son has this... we have the basic info on this, {from the web}... but we r looking for people who have been or going through the same thing... can you help?

Answer: Synonyms and related keywords: McCune-Albright syndrome, polyostotic fibrous dysplasia, café au lait skin pigmentation, autonomous endocrine hyperfunction, precocious puberty, Albright disease, Albright's disease, Albright syndrome, Albright's syndrome McCune-Albright syndrome is a rare, sporadically occurring genetic disorder. McCune-Albright syndrome is a genetic disease affecting the bones and pigmentation (color) of the skin. It also causes hormonal problems and premature sexual development. This precocious puberty disease is much more common in girls. When the signs of puberty (development of breasts, testes, pubic and underarm hair, body odor, menstrual bleeding and increased growth rate) appear before the age of 8 years in a girl and 9 1/2 years in a boy, it is termed 'precocious puberty'. McCune-Albright Syndrome is named for the two physicians who described it over 50 years ago. They reported a group of children, most of them girls, with an unusual pattern of associated abnormalities: bone disease, with fractures, asymmetry and deformity of the legs, arms and skull; endocrine disease, including early puberty with menstrual bleeding, development of breasts and pubic hair and an increased rate of growth; and skin changes, with areas of increased pigment distributed in an asymmetric and irregular pattern. Today, we use the term "McCune-Albright Syndrome" to describe patients who have bone, endocrine, and skin abnormalities. Patients may have only one characteristic, two characteristics or all characteristics. Go to the sites below for more info on this precocious puberty disease found mostly in girls: http://www.emedicine.com/ped/topic1386.h… http://www.magicfoundation.org/www/docs/… http://www.nlm.nih.gov/medlineplus/ency/… http://children.webmd.com/mccune-albrigh… http://www.nichd.nih.gov/health/topics/m… http://www.umm.edu/ency/article/001217.h…

Question: McClunes Albright Syndrome? McCloones or Maclunes Albrite or Albright or variations of these

Answer: McCune-Albright syndrome is a genetic disease affecting the bones and pigmentation (color) of the skin. It also causes hormonal problems and premature sexual development. he hallmark of McCune-Albright syndrome is premature puberty in girls. Menstrual periods may begin in early childhood, long before the appearance of breast or pubic hair development, which normally occur first. Early sexual development may also occur in boys, but this is not as common as it is in girls. Children with McCune-Albright syndrome have abnormal fibrous dysplasia (scar-like tissue) in the bone that can lead to fractures, deformities, and abnormal X-rays. Abnormal bone growth in the skull can lead to blindness or deafness due to "pinched" nerves. Deformities may appear in the facial bones and cause cosmetic problems. In addition, the children have cafe-au-lait spots on their skin, which may be present from birth. McCune-Albright syndrome is caused by mutations in the GNAS1 gene. It is associated with mosaicism, meaning that the abnormal gene is present in a fraction, but not all, of the patient's cells. This disease is not inherited, it is sporadic. This means that a new mutation of the DNA occurs in the womb during development of the patient. This mutation is not passed on to any children the patient later has.