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.
Complications may include deep vein thromboses, pulmonary embolisms and cancer. 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.
Frequency. 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.
Alex Green, a 7-year-old boy with Proteus syndrome, confirmed to have the AKT1 p. E17K somatic variant. Alex died at the age of 9. Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition.
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.
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.
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.
Physicians named the condition for the Greek god who could transform his shape. The most famous case of what some suggest could be Proteus syndrome is that of Joseph Merrick, known as the Elephant Man.
At 19 (in 1994), Mandy Sellars moved out to live on her own. She obtained a B.Sc. in psychology from the University of Central Lancashire, and maintained an independent lifestyle as an adult, with no live-in helpers. She got around using crutches or a wheelchair, and had a specially modified hand-controlled car.
Proteus syndrome is one of the rarest genetic conditions in the world. The syndrome causes abnormal overgrowth in certain parts of the body. It is commonly called the Elephant Man disease.
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.
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.
The disorder from which Merrick suffered was long thought to be an extremely severe case of neurofibromatosis, but his deformities were probably the result of an extremely rare disease known as Proteus syndrome. Merrick was confined to a workhouse at age 17, then escaped four years later to join a freak show (1883).
Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems.
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.
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.
In addition to overgrowth, children with Proteus syndrome may have distinctive facial features with a long face, low nasal bridge, large nostrils and downturned outer part of the eye. Some children have seizures, vision problems and learning difficulties.
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.
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. Proteus syndrome cannot be cured. There are, however, several medical options to manage the signs and symptoms of the condition.
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.
Medical Care. Cultures with susceptibility data are recommended, when available, to guide antimicrobial therapy. Most Proteus strains are susceptible to commonly used antibiotics, except nitrofurantoin and tetracycline.
Proteus can cause gastroenteritis, urinary tract infections, and wound infections. The ingestion of food contaminated by Proteus may contribute to the sporadic and epidemic cases of gastroenteritis, which may cause symptoms such as vomiting, fever, abdominal pain, severe nausea, diarrhea, and dehydration.
1, 5 Diagnosis can be challenging particularly prenatally and in infants. Proteus syndrome often remains undetected until well after birth, as neonatally, there are generally only minimal manifestations present that become more apparent over time given the progressive nature of the syndrome.