![]() This mixture of cells with and without a genetic mutation is known as mosaicism. As cells continue to grow and divide, some cells will have the mutation and other cells will not. ![]() This genetic change is not inherited from a parent it arises randomly in one cell during the early stages of development before birth. Proteus syndrome results from a mutation in the AKT1 gene. Pulmonary embolism is a common cause of death in people with Proteus syndrome. If these clots travel through the bloodstream, they can lodge in the lungs and cause a life-threatening complication called a pulmonary embolism. DVTs occur most often in the deep veins of the legs or arms. Other potential complications of Proteus syndrome include an increased risk of developing various types of noncancerous (benign) tumors and a type of blood clot called a deep venous thrombosis (DVT). It is unclear how these signs and symptoms are related to abnormal growth. For reasons that are unclear, affected people with neurological symptoms are more likely to have distinctive facial features than those without neurological symptoms. Affected individuals may also have distinctive facial features such as a long face, outside corners of the eyes that point downward ( down-slanting palpebral fissures ), a low nasal bridge with wide nostrils, and an open-mouth expression. Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss. Blood vessels (vascular tissue) and fat (adipose tissue) can also grow abnormally in Proteus syndrome. This type of skin growth usually occurs on the soles of the feet and is hardly ever seen in conditions other than Proteus syndrome. The condition can also cause a variety of skin growths, particularly a thick, raised, and deeply grooved lesion known as a cerebriform connective tissue nevus. Bones in the limbs, skull, and spine are often affected. In people with Proteus syndrome, the pattern of overgrowth varies greatly but can affect almost any part of the body. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age. Newborns with Proteus syndrome have few or no signs of the condition. ![]() The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Organs and tissues affected by the disease grow out of proportion to the rest of the body. Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |