What is Proteus syndrome?
Proteus syndrome, also called elattoproteus syndrome or elephant man disease, is a rare genetic condition affecting about one in a million people in the world. It is characterized by the overgrowth of several body tissues. The syndrome has been named after the Greek God, Proteus, who was believed to have the power to change his body into various shapes. The overgrowth of various tissues occurs disproportionately or in a patchy manner with randomly affected and unaffected areas of the body. This results in abnormal growth of the bones, skin, blood vessels and other tissues, leading to various deformities. There may be different skin lesions, such as lump-like swellings, dark patches and thick and raised areas. Newborns generally show no signs of the disease. The symptoms may appear at about six to 18 months of age. The overgrowth of tissue becomes more prominent and severe with time. The skin lesions may cause cosmetic concerns and discomfort in the person. Skeletal or bony overgrowth may make it difficult for them to perform various activities. The tissue overgrowth in internal organs, such as the lungs, may cause breathing difficulties. There is a high risk of blood clot formation in deep veins (deep vein thrombosis) or inside the blood vessels of the lungs (pulmonary embolism), leading to life-threatening consequences. Generally, people affected with Proteus syndrome have normal intelligence, and their general health may also be good.
Is there a cure for Proteus syndrome?
Proteus syndrome cannot be cured. There are, however, several medical options to manage the signs and symptoms of the condition. Since various tissues are subjected to overgrowth, the treatment often requires collaborative work by doctors specializing in
- Internal medicine
- Orthopedics (to manage the bone and muscle abnormalities)
- Pulmonary medicine (to manage the lung-related symptoms)
- Dermatology (to manage the skin-related issues)
- Psychiatry (to manage the psychological aspect of the syndrome)
- Hematology (to manage the abnormalities in the blood, such as any clotting defects)
Besides, there is also a need for physical rehabilitation by a physiotherapist. The person may also need to wear special shoes or other physical aids that are tailor-made for them by a pedorthist.
Thus, every individual with Proteus syndrome needs to get individualized treatment depending on their medical needs. A geneticist may also be involved to explore the genetic aspects of the disease. The person may be monitored for certain symptoms, such as skin manifestations, before a particular treatment is recommended. Surgery may be needed to correct abnormal skin or bony growths. Besides, an occupational therapist may be involved to help the person become financially independent. The person can also enroll themselves in any of the various clinical trials going on to explore the treatment options for Proteus syndrome. One such clinical trial is exploring the drug miransertib as the first potential approved treatment for Proteus syndrome. Participating in clinical trials allows one to avail the advantages of advanced treatment options before they become publicly available.
What causes Proteus syndrome?
Proteus syndrome is caused by a defect in the gene called the AKT1 gene. This gene is responsible for the production of a protein that regulates cell growth, division, maturation, function and survival. Despite being a genetic condition, Proteus syndrome is not inherited from either of the parents. The defect in the gene appears randomly in any of the cells when the baby is developing in the uterus. Thus, some cells have a normal AKT1 gene, whereas some are abnormal (mosaicism). Unlike popular misconceptions, Proteus syndrome is not caused by environmental factors, such as nutrition or pollution.
Health Solutions From Our Sponsors
Top Is There a Cure for Proteus Syndrome Related Articles
Family Health History: Genetics, DNA Testing and Your HealthWebMD explains why your doctor asks about your relatives' health conditions and how you can get the information if you don’t know.
Genetic CounselingYour health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Genetic Diseases (Disorder Definition, Types, and Examples)The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
11 Surprising Things Your Genes Say About YouExplore what role DNA plays in your health, love life, and more in this WebMD slideshow.
Who Should Get Genetic Counselling?Genetic counseling is the process that helps you in determining hereditary or genetic (running in your family) problems that might affect you or your family. It is done by a trained professional.