Proteus Syndrome is a rare genetic disease characterized by excessive and asymmetric growth of bones, skin and other tissues, resulting from the 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.
Causes of Proteus Syndrome
The cause of Proteus Syndrome is still not well established, however it is believed that it is a genetic disease resulting from the spontaneous mutation in the ATK1 gene that happens during the development of the fetus.
Despite being genetic, Proteus Syndrome is not considered hereditary, and there is no transmission of 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 genetic mutation.
In addition to informing the possibility of the development of the syndrome, genetic counseling also informs the family about the condition in order to prepare it for the baby's arrival. Find out how genetic counseling is done.
Main symptoms
The clinical manifestations of Proteus Syndrome are several, however the most frequent symptoms are:
- Deformations in the arms, legs, skull and spinal cord; Body asymmetry; Excessive skin folds; Spine problems; Longer face; Cardiac problems; Warts and light spots on the body; Enlarged spleen; Increased finger diameter, called hypertrophy mental retardation.
In addition, some patients may also experience other symptoms such as seizures, enlarged lips or loss of vision. However, in most cases, patients normally develop their intellectual capacities and can lead a normal life.
It is important that the Syndrome be identified and the patient monitored since the onset of symptoms to avoid complications, such as the occurrence of rare tumors or the occurrence of Deep Venous Thrombosis followed by Pulmonary Embolism, which can result in death.
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 the symptoms of the disease, in addition to surgery to repair tissues, remove tumors and improve the patient's aesthetics.
In addition, it is extremely important that treatment is performed 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 support necessary to have a good quality of life.
It is recommended that the person with the syndrome undergo periodic examinations in order to identify any other type of alteration and follow-up by the multidisciplinary team to happen regularly. Understand how the treatment for Proteus Syndrome should be done.
