Proteusoireyhtymä

Proteusoireyhtymä, also known as Proteus syndrome, is a rare genetic disorder characterized by abnormal tissue growth and overgrowth of various parts of the body. It is classified as a multisystem disorder due to its ability to affect skin, bones, muscles, and internal organs. The condition is caused by somatic mutations in the AKT1 gene, which plays a critical role in cell growth, proliferation, and survival. These mutations are not inherited but occur randomly during embryonic development, leading to a mosaic distribution of affected tissues.

Individuals with Proteus syndrome typically exhibit asymmetric overgrowth that becomes more pronounced with age. Common features include overgrowth of bones and skin, abnormal curvature of bones, vascular malformations, and skin tumors such as epidermal nevi. The severity and specific manifestations vary widely among affected individuals. Additional complications may involve intellectual disability, increased risk of blood clots, and health issues related to vascular anomalies.

Diagnosis of Proteus syndrome relies on clinical criteria, including the presence of characteristic features and genetic testing to identify AKT1 mutations. Because of the variable presentation, diagnosis can be challenging and often involves multidisciplinary assessment.

There is no cure for Proteus syndrome, and treatment primarily focuses on managing symptoms and preventing complications. Surgical interventions may be necessary to address deformities or functional impairments. Continuous medical surveillance is essential due to potential issues such as blood clots and other systemic complications.

Proteus syndrome is extremely rare, with an estimated prevalence of less than 1 in 1,000,000. Research into its molecular mechanisms continues to improve understanding and may lead to targeted therapies in the future. The condition’s unpredictable course requires individualized management and long-term care strategies.