McCune-Albright Syndrome was named after the two eminent physicians who described it more than half a century ago. They told the society about the children, most of whom were girls. Many of them had short stature, a round face, a short neck, shortened IV and V metatarsal or metacarpal bones, muscle spasms, skeletal changes, delayed teething, and enamel hypoplasia. Mental retardation and endocrine disorders were also observed, expressed by early puberty with menstrual bleeding, breast development, growth of pubic and chest hair, increased growth rates of children, and skin changes.
In modern medicine, the term "Albright's syndrome" is used in relation to patients with all or only some of the endocrine and skin abnormalities. There are cases when the diagnosis was made in early childhood. However, in typical cases, it is given to children at the age of 5-10 years, based on the signs that are characteristic of this disease. In general, it is rare and inherited. Both the etiology and pathogenesis of this disease remain unknown. Let's look at the signs of the disease.
Disorders in the endocrine system
Most common in girls with Albright syndromeprecocious puberty is observed, which is caused by estrogens released into the blood from the ovarian cyst. Cysts may enlarge, then decrease in size over several weeks or days. With the help of the ultrasound procedure, it is possible to see and measure the size of neoplasms. Cysts can grow to quite decent sizes. There were cases when it grew to the size of a golf ball, that is, more than 50 mm in diameter.
Breast enlargement and menstrual bleeding are observed along with the growth of the cyst. If the girl began menstruating before the age of 2, then this is the first symptom of Albright's syndrome. However, the presence of irregular periods and ovarian cysts can be observed in both adolescents and adult women. This does not prevent having he althy children.
Treatment of children with precocious puberty is quite difficult and ineffective. Even if the cyst is surgically removed, it may reappear. When taking the hormone progesterone, menstruation can be stopped, but the rapid rate of development and growth of bones does not slow down. Possible negative consequences for the work of the adrenal glands. Treatment is with oral medications that block estrogen synthesis.
Thyroid function
50 percent of people with Albright syndrome have thyroid problems. This is the so-called goiter, nodules and cysts. In rare cases, subtle structural changes are possible. In these patients, the level of thyroid-stimulating hormone produced by the pituitary gland is low, andthyroid hormone levels are normal or slightly elevated. Treatment is carried out with the help of which the synthesis of thyroid hormones is reduced. It is indicated in cases where the level of secreted hormones is high enough.
Excessive secretion of growth hormone
When diseased, the pituitary gland secretes large amounts of growth hormone. Acromegaly has been found in children diagnosed with Albright's syndrome. The young men began to have rough facial features, their arms and legs quickly increased, they could suffer from arthritis. The treatment of children with such signs is reduced to the surgical removal of the pituitary gland and the use of synthesized analogues of the hormone somatostatin, which suppress the production of growth hormone.
Other endocrine disorders
Rarely enough, there is excessive secretion and enlargement of the adrenal glands. Such a violation can lead to obesity of the trunk and face, weight gain, cessation of growth and skin fragility. All these symptoms were called Cushing's syndrome. With such changes, the affected adrenal gland is removed or drugs are taken that reduce the synthesis of cortisol.
Sometimes, children who have Albright syndrome have very low levels of phosphorus in their blood due to the large loss of phosphate in the urine. This disorder may be responsible for the bone changes associated with rickets. Treatment is with oral phosphates and vitamin D supplements.
Skin Related Disorders
On the skin since birth orshortly afterward, café-au-lait spots appear. They most often occur on the sacrum, trunk, limbs, buttocks, back of the neck, forehead, scalp, occiput. All of them are also a sign that the child has Albright syndrome. Photos of these spots can be seen below.
Although neurofibromatosis also has café-au-lait spots. However, Albright's syndrome is characterized by larger spots with irregular outlines, there are fewer of them. They have a diameter of 1 to several centimeters, a brown tint. They all have the same color, they are oval in shape, they are characterized by a smooth surface. Histological studies most often reveal that the epidermis is not changed in its structure, but the amount of melanin in keratinocytes is slightly increased.
Single spots of this type can also occur in quite he althy people. If they do not bother and do not grow, then there is no need for treatment. If intensive growth is observed, there are spots of irregular shape, then it is recommended to examine them histologically. And then surgically removed.
Conclusion
Thus, we can say that Albright's syndrome is characterized by damage to the bones or skull, the presence of age spots on the skin, early puberty. Although there are times when only the first two symptoms are present. In general, the main symptom of the syndrome is bone lesions (osteodysplasia). However, upon the occurrenceAt puberty, this process stops. In adults, bone changes do not progress. In general, with the identification and proper treatment, the prognosis for the treatment of this disease is quite favorable.
