Proteus syndrome 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.
The first signs of Proteus syndrome usually appear between 6 months and 18 months of age when asymmetrical overgrowth begins.
Most patients have normal neuropsychomotor development, with life expectancy between 9months and 29years, according to the severity and location of the abnormalities.
There is no cure or specific treatment for Proteus syndrome and treatment involves medical and surgical management of symptoms.
Classically, males have been thought to be more commonly affected than females, but new studies with genetically confirmed cases have not yet been published. The genetic mutation that causes Proteus Syndrome is a somatic mutation that occurs after conception and is propagated in one or more subsets of embryonic cells.
Proteus is found abundantly in soil and water, and although it is part of the normal human intestinal flora (along with Klebsiella species, and Escherichia coli), it has been known to cause serious infections in humans.
At 61, Jerry DeVries is the oldest known man living with a rare, often deadly disease. For the first time, researchers have found a potential cure, and DeVries has volunteered to test it.
The Proteus syndrome is a rare hamartoneoplastic syndrome that may affect the brain, skull, and extracranial head and neck.
Individuals with Proteus syndrome may be at risk for developing blood clots in the legs a condition known as deep vein thrombosis (DVT). The legs may become painful and swollen and blood vessels in the legs may be visibly enlarged.
Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems.
Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition. As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed.
Children and adults with Proteus syndrome are at risk to get a type of blood clot called a "DVT," or deep vein thrombosis, which can cause a serious problem called a pulmonary embolism.
Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature.
The progressive overgrowth most commonly causes severe orthopaedic complications, but it can cause many other complications. One of the most common complications in patients with PS is deep venous thrombosis and pulmonary embolism, which can cause premature death.
Generally, Proteus syndrome is treated via surgery or physical therapy.
What are the signs and symptoms of Proteus syndrome? The main feature of Proteus syndrome is asymmetrical overgrowth of parts of the body. This overgrowth is often not present at birth but may become more noticeable over time.
Since Proteus mirabilis is a form of bacteria, infections caused by Proteus mirabilis are usually treated using antibiotics. Antibiotics are used to kill bacteria in the body.
Infection occurs either by migration of bacteria up the catheter along the mucosal sheath or by migration up the catheter lumen from infected urine. UTIs are the most common clinical manifestation of Proteus infections.
For hospitalized patients, therapy consists of parenteral (or oral once the oral route is available) ceftriaxone, quinolone, gentamicin (plus ampicillin), or aztreonam until defervescence. Then, an oral quinolone, cephalosporin, or TMP/SMZ for 14 days may be added to complete treatment.
MODE OF TRANSMISSION: Proteus spp. are part of the human intestinal flora 1 3- 5 and can cause infection upon leaving this location. They may also be transmitted through contaminated catheters (particularly urinary catheters) 1 4 5 or by accidental parenteral inoculation.
Proteus syndrome is caused by a change in the AKT1 gene. It is not inherited, but occurs as a random genetic change in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 genetic change affects only a portion of the body cells.
P. mirabilis causes between 1-10% of all urinary tract infections, varying with the geographic location of the study, the types of samples collected, and the characteristics of the patients examined. In the most recent large North American study, this species caused 4% of almost 3,000 UTI cases (9).
Proteus is a genus of Gram-negative bacteria.
The overall mortality rate was 29.0% with an attributable mortality rate of 25.6%.