Most people with Proteus syndrome have a variant seen in the AKT1 gene in some, but not all cells of the body. There is no cure or specific treatment for Proteus syndrome and treatment involves medical and surgical management of symptoms.
Pulmonary embolism is the most common cause of death among people with Proteus syndrome. Overall, about 25% of people with Proteus syndrome die before the age of 22.
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.
Blood vessels (vascular tissue) and fat (adipose tissue) can also grow abnormally in Proteus syndrome. Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss.
The chances for a person with Proteus syndrome to have an affected sibling are low, much less than 1/100 or 1 percent. Adults with Proteus syndrome have never had any affected children.
One of the features of Proteus syndrome the researchers looked at was the cerebriform connective tissue nevus (CCTN), which is a disfiguring, massive overgrowth of the skin, typically on the soles of the feet. These lesions can cause patients pain and make it difficult to walk and find shoes that fit.
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 syndrome is caused by a variant in a growth regulatory gene called AKT1 that occurs after fertilization of the embryo (somatic mutation). Affected persons have some cells with a normal copy of this regulatory gene and some cells with the abnormal gene (mosaic).
Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births.
Most people with Proteus syndrome have a variant seen in the AKT1 gene in some, but not all cells of the body. There is no cure or specific treatment for Proteus syndrome and treatment involves medical and surgical management of symptoms.
Brain abnormalities are not common in Proteus syndrome; when present, hemimegalencephaly and migrational disorders are typically seen, commonly with an associated seizure disorder. Maxillary and mandibular dysmorphism may occur, including unilateral condylar hyperplasia.
The irregular overgrowth worsens with age and increases the susceptibility to tumors. Besides overgrowth of limbs, Proteus syndrome also causes a variety of skin lesions and thickening of the soles of the feet. Some patients have neurological complications, such as mental retardation, seizures and vision loss.
Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems.
Treatment / Management
If a patient has a more severe condition or is in an inpatient setting, they may begin antibiotic therapy via intravenous administration of either ceftriaxone, gentamycin, fluoroquinolone, gentamycin plus ampicillin, or aztreonam until fever resolves.
Proteus urinary tract infections tend to be more serious than those caused by E. coli and other coliforms because, although these usually are confined to the bladder, Proteus spp. have a predilection for the upper urinary tract where they may cause pyelonephritis.
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-like syndrome has the clinical features of Proteus syndrome but lacks some of the required criteria necessary for diagnosis. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi.
Proteus infections, if unrecognised, can become established and cause major health problems. Proteus is more common in people who have or have had a urinary catheter. Minimizing the incidence and duration of urinary catheterization is an important part of preventing infection.
It was described by Cohen and Hayden as a distinct clinical entity in 1979, but it was only in 1983 that Wiedeman would give its name. The earliest case of Proteus syndrome was reported by Joseph Merrick and described by Treves, in the 19th century.
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.
Proteus syndrome is a mosaic genetic overgrowth disorder caused by a postzygotic, mosaic activating mutation in AKT1. Rare prenatal presentations include segmental tissue overgrowth, and skeletal and CNS anomalies.
Here In, We present a case of secondary infertility caused by proteus species for ten years. The case was unique because all other investigations for secondary infertility were normal. The findings of this case suggest that clinicians should maintain a high index of suspension for infections as a cause of infertility.
Proteus species are most commonly found in the human intestinal tract as part of normal human intestinal flora, along with Escherichia coli and Klebsiella species, of which E coli is the predominant resident. Proteus is also found in multiple environmental habitats, including long-term care facilities and hospitals.
In general, the rate of Proteus mirabilis sensitivity to cephalosporin was higher than 50%, and the rate of sensitivity to cefoperazone/sulbactam was the highest (96.9%) (third-generation cephalosporin + β-lactamase inhibitor). Seasonal variations in antibiotic susceptibility rates were confirmed.