McCune-Albright Syndrome was named after two prominent doctors who described it more than half a century ago. They told society about children, most of whom were girls. Many of them had short stature, a round face, a short neck, a short IV and V metatarsal or metacarpal bones, muscle cramps, skeleton changes, delayed teething , enamel hypoplasia. There was also a delay in mental development and endocrine diseases, expressed by early puberty with menstrual bleeding, breast development, hair growth on the pubis and chest, an increase in the growth rate of children and skin changes.
In modern medicine, the term "Albright Syndrome" is used in relation to patients with all or only some endocrine and skin abnormalities. There are cases when the diagnosis was made in early childhood. However, in typical cases, it is given to children aged 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 often, girls with Albright syndrome have premature puberty, which is caused by estrogens secreted into the bloodstream from ovarian cysts. Cysts may enlarge, after decreasing in size over several weeks or days. Using the ultrasound procedure, it is possible to see and measure the size of tumors. Cysts can grow to quite decent sizes. There were times 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 cyst growth. If the girl began menstruation before 2 years, then this is the first symptom of Albright syndrome. However, the presence of irregular menstruation and ovarian cysts can be observed in both adolescents and adult women. This does not stop having healthy children.
Treatment of children with premature 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 bone growth does not slow down. Possible adverse effects on the adrenal glands. During treatment, oral preparations are used that block estrogen synthesis.
Thyroid function
50 percent of people with Albright Syndrome suffer from thyroid dysfunction. This is the so-called goiter, nodules and cysts. Subtle structural changes are possible in rare cases. In these patients, the level of thyroid-stimulating hormone produced by the pituitary gland is low, but the levels of thyroid hormones are normal or slightly elevated. Treatment is carried out with the help of which the synthesis of thyroid hormones is reduced. It is shown in cases where the level of secreted hormones is high enough.
Excessive secretion of growth hormone
With the disease, the pituitary gland begins to secrete a large amount of growth hormone. Acromegaly was detected in children diagnosed with Albright syndrome. The young men began to appear rough facial features, arms and legs quickly increased, they could suffer from arthritis. 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
Rather rarely, there is excessive secretion and expansion 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 are called Cushing's syndrome. With such changes, the affected adrenal gland is removed or medications are taken that reduce the synthesis of cortisol.
Sometimes in children who have Albright syndrome, a very low level of phosphorus is observed in the blood due to a large loss of phosphate in the urine. This disorder can be the cause of bone changes associated with rickets. As a treatment, oral phosphates and vitamin D are prescribed in addition.
Skin disorders
On the skin from birth or soon after it, stains of the color "coffee with milk" appear. They most often occur on the sacrum, trunk, limbs, buttocks, back of the neck, forehead, on the scalp, nape. All of them are also a sign that the child has Albright syndrome. Photos of these spots can be seen below.
Although with a disease such as neurofibromatosis, there are also spots of color "coffee with milk." However, Albright syndrome is characterized by larger spots with irregular outlines, fewer in number. They have a diameter of 1 to several centimeters, a brown tint. All have the same color, they are oval in shape, they are characterized by a smooth surface. During histological studies, it is most often revealed 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 completely healthy people. If they do not bother and do not grow, then treatment is not necessary. If intense growth is observed, there are spots of irregular shape, then it is recommended to study them histologically. And then remove it surgically.
Conclusion
Thus, we can say that Albright syndrome is characterized by damage to bones or skulls, the presence of age spots on the skin, and early puberty. Although there are cases when only the first two symptoms are present. In general, the main symptom of the syndrome is bone lesions (osteodysplasia). However, at the onset of puberty, this process is suspended. In adults, bone changes do not progress. In general, with the identification and proper treatment, the prognosis of therapy for this disease is quite favorable.