McCune-Albright Syndrome
We have a three-year-old little girl that was recently diagnosed with McCune-Albright Syndrome. Her first symptom was precocious puberty. We have been unable to find information on this disease. We would appreciate any information you may have on the syndrome.
Question:Robert Steele
Robert W. Steele, MD, is a board certified pediatrician at St. John's Regional Health Center in Springfield, MO. He graduated from medical... Read more
This syndrome affecting children is characterized by having three types of problems: Irregular skin pigmentation, bone disease, and endocrine problems. The extent to which each of these problems exist in those with McCune-Albright Syndrome is quite variable. Thus, many children with McCune-Albright are entirely healthy while others have severe bone and endocrine disease.
SKIN
Children with McCune-Albright have irregularly bordered areas called cafe-au-lait spots so called because on light skinned people, they are the color of coffee with milk. In African-Americans and other darker skinned individuals, these spots may be harder to see. These spots do not cause any medical problems although depending upon where they are, they may pose a cosmetic problem.
ENDOCRINE DISEASE
These are problems dealing with various hormones throughout the body. The most common are listed below:
• Girls with McCune-Albright often have precocious puberty most likely caused by estrogen secreted by ovarian cysts. These cysts may be seen on ultrasound and are the usual cause for early breast development and menstrual bleeding. Although these cysts may be surgically removed, they often recur, thus, treating them with medication is usually preferable. A progesterone-like hormone (Provera) is usually given to halt menstrual bleeding, however, treatment of the other signs of precocious puberty is difficult although newer medications have become available in recent years.
• Almost half of those with McCune-Albright have problems involving the thyroid gland. These are usually due to high levels of thyroid hormone. This also is treated with medication.
• Some patients will have excessive growth hormone secreted from the gland in the brain called the pituitary. This causes arthritis, enlargement of the hands and feet, and development of coarse features in the face. The over-secretion and symptoms manifest themselves during the teenage years and are also treated with medication.
BONE DISEASE
The severity of bone disease in those with McCune-Albright is quite variable as stated above. These patients tend to suffer from what is called polyostotic fibrous dysplasia. This is just a long string of words which describes the process in which normal bone gets replaced with much less stronger cells called fibroblasts. This process may cause these bones to fracture easily or cause deformities as the bones grow. X-rays and special scans are usually done to monitor for these changes. Unfortunately, there are not good medications to control this process, thus bracing, casting, and surgical correction is needed when this is severe.
I hope this helps shed a little light for you. There is a support group dealing with children who have diseases that affect growth that you may find helpful as well:
Answer:MAGIC Foundation for Children's Growth
1327 N. Harlem Ave.
Oak Park, Illinois 60302
(800) 3 MAGIC 3
(708) 383-0808
Fax (708) 383-0899
