Proteus syndrome is a rare genetic disease characterized by excessive and asymmetrical growth of bones, skin and other tissues, resulting in gigantism of various limbs and organs, mainly arms, legs, skull and spinal cord.
Symptoms of Proteus syndrome usually appear between 6 and 18 months, and excessive and disproportionate growth tends to stop in adolescence. It is important that the syndrome is quickly identified so that immediate actions can be taken to correct deformities and improve the body image of patients with the syndrome, avoiding psychological problems, such as social isolation and depression, for example.
Proteus syndrome usually causes certain characteristics, such as
Although there are several physical changes, in most cases, patients with the syndrome typically develop their intellectual abilities and can lead a relatively normal life.
It is important that the syndrome is identified as soon as possible, because if the first changes are followed up, it can help not only prevent psychological disorders, but also avoid some common complications of this syndrome, such as the onset of rare tumors or the onset of deep vein thrombosis.
The cause of Proteus syndrome is not yet well established, but is believed to be a genetic disease resulting from spontaneous mutation of the ATK1 gene that occurs during fetal development.
Although genetic, Proteus syndrome is not considered hereditary, meaning there is no risk of parent-to-child mutation transmission. However, if there are cases of Proteus syndrome in the family, genetic counseling is recommended, as there may be a greater predisposition to the onset of this mutation.
There is no specific treatment for Proteus syndrome, and your doctor generally recommends using specific remedies to control certain symptoms, in addition to surgery to repair tissues, remove tumors, and improve body aesthetics.
When detected at an early stage, the syndrome can be controlled by the use of a drug called rapamycin, an immunosuppressive drug indicated to prevent abnormal tissue growth and prevent tumors from forming.
In addition, it is of the utmost importance that the treatment is performed by a multidisciplinary team of health professionals, and should include pediatricians, orthopedists, plastic surgeons, dermatologists, dentists, neurosurgeens and psychologists, for example. In this way, the person will have all the necessary support to have a good quality of life.
Psychological follow-up is very important not only for patients with the syndrome, but also for family members, as it is possible to understand the disease and take measures that improve the quality of life and self-esteem of the person. In addition, the psychologist is essential to improve learning difficulties, treat depression, reduce a person’s discomfort and allow social interaction.