What is Proteus Syndrome?

Description of the disease

Proteus Syndrome, also known as Ziegler–Nazauel–Toursha Syndrome, is a rare genetic disorder that causes unusual overgrowth of various parts of the body due to mosaic activation of the AKT1 gene. This condition was named after the ancient Greek god Proteus, who could change his form at will.

Classification

• Proteus Syndrome I - classical form of the disease;
• Proteus Syndrome II - associated with thrombosis and fibroma changes.

Symptoms

• Hypertrophy of bones and soft tissues;
• Epidermal nevi;
• Skeletal deformities;
• Epilepsy;
• Intellectual disability.

Causes

Proteus Syndrome is caused by a mutation in the AKT1 gene on the short arm of chromosome 14, leading to uncontrolled cell growth.

Diagnosis

Diagnosis involves clinical examination, genetic testing, and educational defects.

Treatment

Treatment of Proteus Syndrome includes surgical removal of tumors, physical therapy, and symptomatic therapy to alleviate associated symptoms.

Prevention

As Proteus Syndrome is a genetic disorder, prevention consists of genetic counseling for families at risk.

Physician

Proteus Syndrome is treated by geneticists, surgeons, neurologists, and other specialists depending on the patient's symptoms.