Jahnavi Sarma
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Since the affected cells are unable to regulate their own growth, some parts of the patient's body grow to an abnormal size.
There are many strange and rare diseases for which there are no answers. One such disease is the Proteus syndrome. Here, different types of tissue like the bones, skin, tissue of organs or arteries, all grow disproportionately. It also affects the fatty and connective tissues. Many experts are of the view that this condition may be genetic in nature, but it is not an inherited disease. It occurs from a random genetic mutation in the AKT1 gene in the womb. Though a baby looks fine at the time of birth, by the time he or she is six to 18 months old, symptoms may appear. As your child grows, the condition gets progressively worse.
Now, a team of researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have shed light on why the disease occurs. They have identified the genetic mutation that causes Proteus syndrome and they are hopeful that this will clear the way for further research to develop a drug for the condition. The New England Journal of Medicine published this study.
The genetic mutation that that triggers Proteus happens in the womb and it happens randomly. The severity of the disease also depends on when the mutation occurs. Only the cells that come from the cell with the original AKT1 gene mutation display the symptoms of the disease, leaving the individual with a mixture of normal and mutated cells.
Symptoms may appear anywhere between 6 to 18 months after birth. Since the affected cells are unable to regulate their own growth, some parts of the patient's body grow to an abnormal size. Other parts of the body remain normal. One arm may be longer than the other and limbs may be disproportionate. This irregular growth grows progressively worse as the child grows older.
A person with Proteus syndrome may also suffer from intellectual disability, vision issues, seizures, non-cancerous tumors and deep vein thrombosis. The mutated gene, AKT1, is an oncogene. It can stimulate uncontrolled cell growth usually associated with cancer.
There is no cure for Proteus syndrome yet. A doctor tries to manage symptoms instead. Since this condition affects different body parts, you may need to consult many experts including a cardiologist, dermatologist, pulmonologist, orthopedist, psychiatrist and also a physical therapist. Sometimes, surgery may be the only option to remove skin overgrowths and excess tissue as well as growths in the bone.