Proteus syndrome
Proteus Syndrome
Proteus syndrome (pronounced pro-tee-us sin-drome) is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.
Etymology
The name "Proteus syndrome" is derived from the Greek sea-god Proteus, who was known to change his shape to avoid capture. This is reflective of the variable and unpredictable manifestations of the syndrome.
Symptoms
Symptoms of Proteus syndrome are highly variable and can range from mild to severe. They may include overgrowth of the limbs, skin abnormalities, tumors, and vascular malformations. The overgrowth can lead to differences in appearance and physical abilities.
Causes
Proteus syndrome is caused by a mutation in the AKT1 gene. This mutation is not inherited but occurs randomly in a single cell during the early stages of embryonic development. This is known as a mosaic mutation.
Diagnosis
Diagnosis of Proteus syndrome is based on clinical criteria that were established in 1998. These criteria include certain birthmarks, overgrowth of one or more body parts, and specific skin and bone abnormalities.
Treatment
There is currently no cure for Proteus syndrome. Treatment is symptomatic and supportive, and may include surgery to remove overgrown tissue or correct deformities, physical therapy to improve mobility, and counseling to help individuals and their families cope with the psychological aspects of the condition.
Related Terms
External links
- Medical encyclopedia article on Proteus syndrome
- Wikipedia's article - Proteus syndrome
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