Content
Proteus syndrome is a rare genetic disease characterized by excessive and asymmetric growth of bones, skin and other tissues, resulting in gigantism of several limbs and organs, mainly arms, legs, skull and spinal cord.
Symptoms of Proteus Syndrome usually appear between 6 and 18 months of age and excessive and disproportionate growth tends to stop in adolescence. It is important that the syndrome is identified quickly so that immediate measures can be taken to correct the deformations and improve the body image of the patients with the syndrome, avoiding psychological problems, such as social isolation and depression, for example.
Proteus syndrome in the hand
Main features
Proteus syndrome usually causes the appearance of some characteristics, such as:
- Deformations in the arms, legs, skull and spinal cord;
- Body asymmetry;
- Excessive skin folds;
- Spine problems;
- Longer face;
- Heart problems;
- Warts and light spots on the body;
- Enlarged spleen;
- Increased finger diameter, called digital hypertrophy;
- Mental retardation.
Although there are several physical changes, in most cases, patients with the syndrome develop their intellectual capacities normally, and may have a relatively normal life.
It is important that the syndrome is identified as early as possible, because if the monitoring is carried out since the appearance of the first changes, it can help not only to avoid psychological disorders, but also to avoid some common complications of this syndrome, such as the appearance of rare tumors or occurrence of deep venous thrombosis.
What causes the syndrome
The cause of Proteus syndrome is not yet well established, however it is believed that it may be a genetic disease resulting from the spontaneous mutation in the ATK1 gene that occurs during the development of the fetus.
Despite being genetic, Proteus syndrome is not considered hereditary, meaning that there is no risk of transmitting the mutation from parents to children. However, if there are cases of Proteus syndrome in the family, it is recommended that genetic counseling be done, as there may be a greater predisposition for the occurrence of this mutation.
How the treatment is done
There is no specific treatment for Proteus syndrome, and it is usually recommended by the doctor to use specific remedies to control some symptoms, in addition to surgery to repair tissues, remove tumors and improve body aesthetics.
When detected in the early stages, the syndrome can be controlled through the use of a drug called Rapamycin, which is an immunosuppressive medication indicated with the aim of preventing abnormal tissue growth and preventing the formation of tumors.
In addition, it is extremely important that treatment is carried out by a multidisciplinary team of health professionals, and should include pediatricians, orthopedists, plastic surgeons, dermatologists, dentists, neurosurgeons and psychologists, for example. That way, the person will have all the necessary support to have a good quality of life.
Role of the psychologist in Proteus syndrome
Psychological follow-up is very important not only for patients with the syndrome but also for their family members, as this way it is possible to understand the disease and adopt measures that improve the person's quality of life and self-esteem. In addition, the psychologist is essential to improve learning difficulties, treat cases of depression, reduce the person's discomfort and allow social interaction.