Proteus syndrome is a strange disease that grows in people with birth. Let’s know about it.
There are many such strange and rare diseases in the world, one of which is Proteus syndrome. In this disease, different types of tissues and tissues of bones, skin, organs or arteries also start growing. This disease is so dangerous that it also affects fat connective tissues. Many experts believe that the condition may be genetic in nature, but it is not an inherited disease. It results from a genetic mutation in the womb AKT1 gene. In this, a baby looks fine at birth, but when it starts from six to 18 months, it can show symptoms. As the child grows, this condition worsens.
Now, a team of researchers from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, has shed light on why the disease occurs. He has identified a genetic mutation that causes Proteus syndrome, and he hopes it will pave the way for further research to develop a drug for the condition.
Cause proteus syndrome
A genetic mutation that triggers proteases occurs in the womb and increases randomly. The severity of the disease also depends on when mutations occur. Only cells that come from a cell with the original AKT1 gene mutation, except for the individual with a mixture of normal and mutated cells, exhibit signs of the disease. Proteus syndrome with the development of tissue – these muscles, bones, skin, lymphatic. And there may be blood vessels, adipose tissue. This overgrowth can occur almost anywhere. For example, there is often an increase in the size of the head and limbs, which changes their normal size.
Symptoms of proteus syndrome
Its symptoms can appear anywhere between 6 and 18 months after birth. Since the affected cells are unable to regulate their growth, some parts of the patient’s body grow to abnormal size. Other parts of the body remain normal. One arm may be longer than the other and the limbs may be asymmetrical. This irregular development gets progressively worse as the child grows up.
Related complications of this condition
A person with Proteus syndrome may also suffer from intellectual disability, vision issues, seizures, non-cancerous tumors, and nerve disorders. The mutated gene, AKT1, is an oncogene. It can stimulate uncontrolled cell growth commonly associated with cancer.
There is no cure for Proteus syndrome yet. A doctor instead tries to manage the symptoms. Since this condition affects different parts of the body, you may need to consult a number of specialists, including a cardiologist, dermatologist, pulmonologist, orthopedist, psychiatrist, and a physical therapist. Sometimes, surgery may be the only option to remove skin overgrowth and excess tissue as well as bone growth.