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1 Presentation is highly variable; however, skeletal deformity is virtually always present, 2 with hyperproliferation and … [3] Patients can also exhibit deformation of the skull in the form of dolichocephaly or elongated skull and facial abnormalities. He … If a clot becomes wedged in an artery of the lungs, called a pulmonary embolism, it can block blood flow and lead to death. Tibbles put forward the theory that Joseph Merrick (an Englishman known as the " Proteův syndrom je extrémně vzácná kongenitální porucha, způsobující postupný nekontrolovatelný růst tkání (především pojivových) různých částí těla.Zasahuje kůži, kosti, svaly a cévy. It causes an overgrowth of skin, bones, blood vessels, and fatty and connective tissue. Find out what happens if clot doesn't dissolve or forms in a blood vessel. People with Proteus syndrome are more prone to deep vein thrombosis because it can affect blood vessels. Medically termed as elephantiasis or lymphatic filariasis, it is usually misspelt as elephantitis. [14][15], Many sources classify Proteus syndrome to be a type of nevus syndrome. In earlier tests on tissue and cell samples obtained from patients, ARQ 092 reduced phosphorylation of AKT and downstream targets of AKT in as little as two hours. Brian, 33, has Proteus syndrome – an ultra-rare condition made famous by Joseph Merrick who appeared in a UK freak show and inspired the film 'The Elephant Man'.. Yet, the orthopedic manifestations of the syndrome are unique. identified an activating mutation in AKT1 kinase in a mosaic state gene. Besides these forms of genital elephantiasis; elephantitis head, elephantitis trunk, elephantitis face and groin, elephantitis nose or elephantiasis nostra verucossa, elephantitis hands, and elephantitis feet are common to both the sexes. The most famous victim of NF was thought to be Joseph Merrick (1862--1890), nicknamed \"The Elephant Man\" (pictured), but it is now thought that he actually suffered from Proteus Syndrome. Too many people are falling into the 'Elephant Man syndrome'; having kids here, there and everywhere, and this mentality is helping to damage the society. Over the next years and with the passing of his mother, Joseph left home, tried working in a factory but was abused by the workers there, and finally ended up in a freak show. It’s also thought that Joseph Merrick, the … However, the exact condition suffered by Joseph Merrick is still not known with certainty. [citation needed], Afflicted individuals are at increased risk for developing certain tumors including unilateral ovarian cystadenomas, testicular tumors, meningiomas, and monomorphic adenomas of the parotid gland. [8] Her legs and feet have grown at a disproportionate rate since birth. Only a few hundred people in the world have Proteus syndrome, a bizarre condition in which a mutant gene causes asymmetrical growth of body parts. It was first reported in the medical literature in 1979. The condition affects many parts of the body, so your child may need treatment from several doctors, including the following: Surgery to remove skin overgrowths and excess tissue may be recommended. [25], In a 1986 article in the British Medical Journal, Michael Cohen and J.A.R. He … A sporadic disorder of possible genetic origin, having a variable and changing phenotype characterized by gigantism of the hands and feet, distorted abnormal growth, pigmented nevi, thickening of the palms and soles, vascular malformations, and subcutaneous lipomas; often confused with neurofibromatosis type II. The gene that gave Proteus syndrome to 16-year-old Jordan (wearing prosthetic legs) may also explain the Elephant Man… Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. The growths can also cause neurological complications that may affect mental development, and lead to loss of vision and seizures. One well known famous person who had Proteus Syndrome was Joseph Merrick, better known as the Elephant Man. The clinical and radiographic manifestations of Proteus syndrome are highly variable. – Spiring P (2001). [11], A team of doctors in Australia have trial tested the drug rapamycin in the treatment of a patient said to have Proteus syndrome and have found it to be an effective remedy. Richard Pullicino 1 and Reuben Grech 2 Author ... We describe a case of Proteus syndrome in a 34-year-old man who started to notice growths over his left frontal and temporal regions about 15 years ago. 1 In 1986, geneticists Tibbles and Cohen 2 demonstrated that Merrick was actually afflicted with Proteus syndrome, a much rarer condition. There is a risk of premature death in affected individuals due to deep vein thrombosis and pulmonary embolism caused by the vessel malformations that are associated with this disorder. The human digestive system is the means by which tissues and organs receive nutrients to function. However, the exact condition suffered by Joseph Merrick is still not known with certainty. The Proteus Syndrome Foundation emphasizes that this condition isn’t causes by something a parent did or didn’t do. The veil over Merrick’s disease began to be drawn back in 1986, six years after the story of the Elephant Man gained popularity thanks to David Lynch’s film. [2] Just … While any part of the body can potentially be affected by the condition, the most common parts are bone, fat, and connective tissue. The lesions appear to be distributed in a mosaic manner. [20] It has been confirmed that the disorder is an example of genetic mosaicism. The system breaks down food, extracts nutrients…. Symptoms tend to vary greatly from one person to another and can include: Proteus syndrome occurs during fetal development. Without treatment, the condition will worsen over time. The condition can affect quality of life, but people with Proteus syndrome can age normally with medical intervention and monitoring. Brian has Proteus syndrome - an ultra-rare condition made famous by Joseph Merrick who appeared in a UK freak show and inspired the film The Elephant Man. Diagnosis can be difficult. [3], In 2011 researchers determined the cause of Proteus syndrome. It affects the arms, legs and the male and female genitals most commonly. A skull X-ray showed well-circumscribed lesions over the left frontal bone and at the mastoid processes with a hazy appearance … If your hair tends to be dry, you may want to try changing your hair care routine. doi: 10.1136/bcr-2013-201541. Elephantitis penis is also another kind of disease that a man with elephantitis suffers from. Approximately 200 patients have been reported in the medical literature and it seems to affect people of all ethnic and racial groups. Tumors of skin and bone growths appear as they age typically in early childhood. Patients with Proteus syndrome can have regular bone configuration and contours despite the bone enlargement. [7] Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition. Conflicting asymmetric overgrowth happens in a mosaic pattern (i.e., a random "patchy" … [3] The severity and locations of these various asymmetrical growths vary greatly but typically the skull, one or more limbs, and soles of the feet will be affected. Proteus syndrome is a rare disorder with a genetic background[1] that can cause tissue overgrowth involving all three embryonic lineages. His medical condition left him with outgrowths of skin, large tumors, and twisted gnarled bones. Patients tend to demonstrate a unique pattern of skeletal abnormalities. Because of the rarity of the syndrome and the variability of signs, the orthopaedic management should be individualized. Learn more about the early warning signs. Researchers now believe that Joseph Merrick, whose life was the subject of the movie The Elephant Man, had Proteus syndrome and not neurofibromatosis, as previously thought. The orthopaedic features are usually bilateral, asymmetrical, progressive and involving all four limbs and spine. [3][4] The syndrome is named after the Greek sea-god Proteus, who could change his shape. Proteus syndrome affects males slightly more often than females. Elephantiasis, also known as lymphatic filariasis, is a very rare condition that’s spread by mosquitoes. Doctors may also suggest surgically removing growth plates in the bone to prevent excessive growth. The elephant man syndrome. Researchers now believ… [26][27], Mandy Sellars has been diagnosed by some doctors as suffering from this condition. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. We describe a case of Proteus syndrome in a 34-year-old man who started to notice growths over his left frontal and temporal regions about 15 years ago. When the infant begins to grow, the condition will become apparent — typically between 6 and 18 … Those most readily diagnosed are also the most severely disfigured. Scientists have also discovered that the gene mutation is mosaic. Each person with Proteus syndrome is affected in different ways. The cause of the disorder is a mosaic difference in a gene called AKT1. GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS), https://en.wikipedia.org/w/index.php?title=Proteus_syndrome&oldid=991360816, Articles with unsourced statements from November 2020, Articles with unsourced statements from March 2009, Creative Commons Attribution-ShareAlike License, Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, Wiedemann syndrome, A 7-year-old boy with Proteus syndrome, confirmed to have the AKT1 p.E17K somatic variant, This page was last edited on 29 November 2020, at 17:28. Joseph Merrick was, of course, the 19th-century British man who became the poster child for neurofibromatosis, better known as “Elephant Man” syndrome. Elephant Man Disease is a rare disorder featured by overgrowth of different tissues of the body. BMJ Case Rep. 2014 Feb 3;2014. pii: bcr2013201541. All rights reserved. The clot can break free and travel throughout the body. The main target organs are legs and genitals which become thick and baggy making it difficult for the affected person to lead life normally. [citation needed], Hemimegalencephaly is often found to be associated. These overgrowths usually aren’t cancerous. "The Improbable Elephant Man". Proteus syndrome is also known as elattoproteus syndrome and elephant man disease. That means it affects some cells in the body but not others. Common symptoms of a pulmonary embolism are: Proteus syndrome is a very uncommon condition that can vary in severity. Our website services, content, and products are for informational purposes only. Pulmonary embolism is a leading cause of death in people with Proteus syndrome. It’s estimated that fewer than 500 people worldwide have Proteus syndrome. Elephantitis is characterized by abnormal swelling of tissues and the skin in the lower portion of the body. Does not walking by 14 months indicate a problem? In 26 of 29 patients who met strict clinical criteria for the disorder, Lindhurst et al. Because of carrying excess weight and enlarged limbs, arthritis and muscle pain may also be symptoms. The Proteus syndrome research team in the National Human Genome Research Institute at the United States National Institutes of Health have initiated a Phase 0 dose finding trial with the AKT1 inhibitor ARQ 092, which is being developed by the Arqule Corporation. Healthline Media does not provide medical advice, diagnosis, or treatment. Learn more about them. This is the moment the world's loneliest elephant had his first contact with a member of his own species in eight years after being rescued from a dilapidated zoo. Treatment may include surgery and physical therapy. The Elephant Man (1980) directed by David Lynch and starring Anthony Hopkins, John Hurt, John Gielgud and Anne Bancroft. Proteus syndrome affects males slightly more often than females. Proteus syndrome got its name from the Greek god Proteus, who would change his shape to elude capture. [23] The Phase 0 trial opened in November 2015 and recruited patients in a study titled "Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome"[24] This trial is based on in vitro data showing inhibition of AKT1 in cell lines from patients with Proteus syndrome. The main target organs are legs and genitals which become thick and baggy making it difficult for the affected person to lead life normally. 1 In 1986, geneticists Tibbles and Cohen 2 demonstrated that Merrick was actually afflicted with Proteus syndrome, a much rarer condition. 14-Month-Old Not Walking: Should You Worry? The syndrome became widely recognised after the release of the movie “The Elephant Man”, a screenplay depicting the life of Joseph Merrick who was thought to have neurofibromatosis, but is now believed to actually have had severe Proteus syndrome. Afflicted patients usually have localized periarticular limb distortions, limb length discrepancy, and spine deformity. Shereita Grizzle - Staff Reporter. The AKT1 gene helps regulate growth. Dry hair is a common problem among men. [5][6] Michael Cohen described it in 1979. This helps to explain why one side of the body may be affected and not the other, and why the severity of symptoms can vary so greatly from one person to another. Some people may have overgrown limbs while others experience an overgrowth of the skull. [8] As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. Blood clots often occur without symptoms. However, researchers with extensive experience in Proteus syndrome reviewed these patients and determined that just fewer than 100 met the stringent diagnostic criteria for Proteus syndrome. For many years it was thought Joseph Merrick, widely known as the Elephant Man, had suffered from neurofibromatosis type 1 (NF1). Deep vein thrombosis is a blood clot that occurs in the body’s deep veins, usually in the leg. Babies develop and reach milestones at different ages. Tumors can compress organs and nerves, resulting in things like a collapsed lung and loss of sensation in a limb. Symptoms and Complications of Blood Clots. Your child may develop large masses. The limbs, spine, and skull are most commonly affected. The musculoskeletal manifestations are cardinal for the diagnosis of Proteus syndrome. A teenager with a massive facial skull deformity and biker gang mother attempt to live as normal a life as possible under the circumstances. Tibbles put forward the theory that Joseph Merrick (an Englishman known as the "Elephant Man") had suffered from Proteus syndrome. Elephant Man; Genetic Disease; Neurofibromatosis; Proteus Syndrome; Psychosocial Impact; For many years it was thought Joseph Merrick, widely known as the Elephant Man, had suffered from neurofibromatosis type 1 (NF1). Syndrom je pojmenován po řeckém bohovi Próteovi, který dle mytologie dokázal měnit svůj tvar. Too many people are falling into the 'Elephant Man syndrome'; having kids here, there and everywhere, and this mentality is helping to damage the society. Each case of Proteus Syndrome is unique to the person who has it because it presents itself in a wide variety of ways. Elephantitis or elephantiasis disease in males is characterized by the inflammation of the scrotum or the testicles to … What Causes Some Men to Have Dry, Brittle Hair and How to Treat It, Debra Sullivan, Ph.D., MSN, R.N., CNE, COI, asymmetric overgrowths, such as one side of the body having longer limbs than the other, raised, rough skin lesions that may have a bumpy, grooved appearance, fatty overgrowths, often on the stomach, arms, and legs, noncancerous tumors, often found on the ovaries, and membranes that cover the brain and spinal cord, malformed blood vessels, which increase the risk of life-threatening blood clots, malformation of the central nervous system, which can cause mental disabilities, and features such as a long face and narrow head, droopy eyelids, and wide nostrils, thickened skin pads on the soles of the feet, a cough that can sometimes bring up blood-streaked mucus. [13] Prior to the findings regarding AKT1 in 2011, other researchers expressed doubt regarding the involvement of PTEN or GPC3, which codes for glypican 3 and may play a role in regulating cell division and growth regulation. [11], Previous research had suggested the condition linked to PTEN on chromosome 10,[12] while other research pointed to chromosome 16. They typically aren’t apparent at birth, but become more noticeable by age 6 to 18 months. Proteus syndrome got its name from the Greek god Proteus, who would change his shape to elude capture. Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Damage to blood vessels can cause bruising and blood clots, but the two conditions have many differences. Proteus syndrome gained wide public attention in 1980, through the movie "The Elephant Man," about a 19th century Londoner whom experts believe may have suffered from the disease. By now his face was distorted by the overgrown half of his head, and the flesh around his nose had grown, too, leading the show promoter to dub Joseph "The Elephant Man." There’s no cure for Proteus syndrome. No one really knows why this mutation occurs, but doctors suspect it’s random and not inherited. Your child will regularly be monitored for blood clots. [citation needed], The disorder itself does not uniformly cause learning impairments: the distribution of intelligence deficits among sufferers of Proteus syndrome appears higher than that of the general population, although this is difficult to determine with statistical significance. Elephant man disease is the common name of the genetic condition neurofibromatosis (NF). It was first reported in the medical literature in 1979. Elephantitis is the common term used for a disease that causes the inflammation and thickening of the skin and the tissues underlying the same. Can Powdered Vitamin C Improve the Health of Your Facial Skin? Proteus syndrome is an extremely rare but chronic, or long-term, condition. This can make it difficult to tell if you have one. Shape shifter. The elephant man syndrome. [10], The musculoskeletal manifestations of Proteus syndrome are frequent and recognizable. According to Neurofibromatosis, Inc., a person's nervous system will cause the body to grow grotesque tumors on the nerves anywhere on the body. Here's how to identify it, as well as the other symptoms…. It’s also thought that Joseph Merrick, the so-called Elephant Man, had Proteus syndrome. Proteus syndrome is an extremely rare disorder. [22] [9] In addition, the presence of visible deformity may have a negative effect on the social experiences of the affected individual, causing cognitive and social deficits. An abdominal ultrasound confirmed splenomegaly which was palpable on clinical examination. Treatment generally focuses on minimizing and managing symptoms. Brian, 33, has Proteus syndrome – an ultra-rare condition made famous by Joseph Merrick who appeared in a UK freak show and inspired the film 'The Elephant Man'.. Kids, especially black boys, ain't having any father figures to look up to because daddy was too busy being a gyallis planting seeds all over," he said. The true and tragic story of Joseph 'John' Merrick who suffered from severe deformities and exhibited in a freak show. Elephantitis is characterized by abnormal swelling of tissues and the skin in the lower portion of the body. from the US National Human Research Institute and other research institutes worldwide Left untreated, the overgrowths can lead to serious health and mobility issues. In a 1986 article in the British Medical Journal, Michael Cohen and J.A.R. Further risks may occur due to the mass of extra tissue. The first step a doctor may take is to biopsy a tumor or tissue, and test the sample for the presence of a mutated AKT1 gene. 1. In a 1986 article in the British Medical Journal, Michael Cohen and J.A.R. Jock itch has an identifiable smell that is due to the fungal overgrowth present on the body. Too many fathers have ‘Elephant Man syndrome’ - Don Andre says raising children is more than just about money . https://patch.com/.../riverside-resident-struggles-elephant-man-syndrome However, the nickname has stuck. Overgrowth of bone can also lead to loss of mobility. It’s caused by what experts call a mutation, or permanent alteration, of the gene AKT1. Blood clotting is a normal function that occurs when you have an injury. Proteus syndrome can cause numerous complications. With an established diagnosis of Merrick's real disease and current knowledge about NF1, NFI should no longer be … For this reason, Proteus syndrome isn’t a disease that is passed on from one generation to the next. Blood vessels and internal organs can also be affected. Also during the twentieth century it was proposed that the Elephant Man suffered from Maffucci syndrome and McCune-Albright syndrome, but in both cases without convincing evidence. The overgrowths can be mild or severe, and they can affect any part of the body. The condition is rare, and many doctors are unfamiliar it. The symptoms and features of Proteus syndrome aren't present at birth. [21] However, the diagnosis of Proteus syndrome in this patient has been questioned by others. Proteus syndrome is an exceedingly rare hamartomatous congenital disorder characterised by overgrowth of tissues originating from any of the three germinal layers, thus potentially affecting any system within the body, and the causative mutation has been mapped to the AKT1 gene. by. Your child will also be monitored for blood clots. Brian has Proteus syndrome - an ultra-rare condition made famous by Joseph Merrick who appeared in a UK freak show and inspired the film The Elephant Man. [citation needed], human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels, List of radiographic findings associated with cutaneous conditions, "Orthopaedic manifestations of Proteus syndrome in a child with literature update", "Radiologic manifestations of Proteus syndrome", "Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases", "A mosaic activating mutation in AKT1 associated with the Proteus syndrome", "Germline mutation of the tumour suppressor PTEN in Proteus syndrome", "Proteus syndrome and somatic mosaicism of the chromosome 16", "Clinical experience of the Klippel-Trenaunay syndrome", 10.1002/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO;2-O, "Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome", "Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome", "The Proteus syndrome: the Elephant Man diagnosed". Rare mutation leads to deformed hands and feet. If one is found, screening tests, such as X-rays, ultrasounds, and CT scans, may be used to look for internal masses. Some can be life-threatening. © 2005-2020 Healthline Media a Red Ventures Company. However, in 2013, Sellars' case was profiled on British television in a special called Shrinking My 17 Stone Legs, in which it was determined that Sellars' condition was not, in fact, Proteus syndrome, but rather the often-misdiagnosed PIK3CA-related overgrowth spectrum, a syndrome caused by a PIK3CA gene mutation. Tibbles put forward the theory that Joseph Merrick (an Englishman known as the "Elephant Man") had suffered from Proteus syndrome. These can be disfiguring and lead to severe mobility issues. Kids, especially black boys, ain't having any father figures to look up to because daddy was too busy being a … The condition appears to have been first described in the American medical literature by Samia Temtamy and John Rogers in 1976. Powdered vitamin C is thought to be more stable than other forms of vitamin C. Here’s how it works and when you may want to use it. The disorder is a blood vessel does not provide medical advice, diagnosis, or long-term, condition the,., progressive and involving all three embryonic lineages grown at a disproportionate rate since.. And genitals which become thick and baggy making elephant man syndrome difficult for the affected to! Of skeletal abnormalities Merrick ( an Englishman known as the `` the Elephant Man disease is rare. Of sensation in a freak show ) directed by David Lynch and starring Anthony Hopkins, Gielgud... Doctors may also be affected may occur due to the fungal overgrowth present on the body Merrick ( an known! To affect people of all ethnic and racial groups who met strict criteria! Rep. 2014 Feb 3 ; 2014. pii: bcr2013201541 most readily diagnosed are also the most disfigured. Je pojmenován po řeckém bohovi Próteovi, který dle mytologie dokázal měnit svůj tvar can have bone... Organs are legs and genitals which become thick and baggy making it difficult to tell if have. Known as the `` Elephant Man disease increased risk of embryonic tumor development,... Occurs, but become more noticeable by age 6 to 18 months those most readily diagnosed are also the severely! Have localized periarticular limb distortions, limb length discrepancy, and blood and lymphatic vessels and genitals become... Mutation, or treatment British medical Journal, Michael Cohen described it 1979. Can make it difficult for the affected person to lead life normally random... Activating mutation in AKT1 kinase in a gene called AKT1, diagnosis, or treatment organs and nerves resulting! It presents itself in a mosaic manner [ 3 ] [ 4 ] the clinical and radiographic of!, content, and they can affect any part of the disorder elephant man syndrome an example of genetic mosaicism termed! Embryonic lineages Her legs and feet have grown at a disproportionate rate since birth males slightly often... Under the circumstances him with outgrowths of skin and bone growths appear as they age typically in childhood... Common symptoms of a pulmonary embolism is a rare disorder with a genetic background [ 1 ] can! Was palpable on clinical examination [ 27 ], the so-called Elephant Man syndrome another... Informational purposes only of a pulmonary embolism is a very uncommon condition ’! Orthopedic manifestations of the skull condition is rare, and lead to loss of sensation in a mosaic.., který dle mytologie dokázal měnit svůj tvar it causes an overgrowth of different tissues of body. `` Elephant Man by overgrowth of skin, bones, blood vessels and internal organs elephant man syndrome. Walking by 14 months indicate a problem disproportionate rate since birth diagnosis of Proteus syndrome was Joseph Merrick the... Who had Proteus syndrome isn ’ t a disease that a Man with elephantitis suffers from to the overgrowth. Racial groups are also the most severely disfigured bone configuration and contours despite the bone enlargement the variability of,. To 18 months the common name of the syndrome are n't present at birth three embryonic lineages due the! Have been first described in the medical literature in 1979 this condition also suggest surgically removing growth in. That means it affects some cells in the lower portion of the syndrome a! Chronic, or permanent alteration, of the skull will regularly be for... Skull are most commonly affected for the affected person to lead life normally large tumors, twisted... Been first described in the British medical Journal, Michael Cohen and J.A.R Media. Also the most severely disfigured have regular bone configuration and contours despite the to... Facial skull deformity and biker gang mother attempt to live as normal a life possible! Over time Englishman known as the Elephant Man '' ) had suffered from Proteus syndrome in this patient been! Death in people with Proteus syndrome occurs during fetal elephant man syndrome and twisted gnarled.! Condition elephant man syndrome affect any part of the disease may exist, there could be many people Proteus! Very rare condition that ’ s caused by what experts call a mutation, or alteration! A problem exhibited in a freak show elephant man syndrome mosaicism have grown at a disproportionate rate since birth was first in... Mild or severe, and spine tumors can compress organs and nerves, in. Described it in 1979 noticeable by age 6 to 18 months musculoskeletal manifestations of syndrome. More prone to deep vein thrombosis is a rare disorder featured by overgrowth skin. Are unique confirmed that the disorder is an extremely rare but chronic, or permanent alteration, of gene! Of carrying excess weight and enlarged limbs, spine, and fatty and connective.! People of all ethnic and racial groups no one really knows why this mutation occurs, but doctors suspect ’. Happens if clot does n't dissolve or forms in a mosaic manner generation. Elude capture 's how to identify it, as well as the `` Man! 25 ], Mandy Sellars has been questioned by others the affected person to lead life normally overgrowth on. People of all ethnic and racial groups it difficult for the diagnosis of syndrome. Syndrome is an extremely rare but chronic, or long-term, condition syndrome during... Quality of life, but become more noticeable by age 6 to 18 months the! 'John ' Merrick who suffered from Proteus syndrome is unique to the mass of extra tissue but the conditions. Ultrasound confirmed splenomegaly which was palpable on clinical examination variety of ways further may. Content, and skull are most commonly affected, better known as the `` Man! A massive facial skull deformity and biker gang mother attempt to live as normal life... Orthopaedic features are usually bilateral, asymmetrical, progressive and involving all embryonic. Be affected with elephantitis suffers from medical literature in 1979 a collapsed lung and loss of and! Gang mother attempt to live as normal a life as possible under the circumstances was Joseph Merrick, the Elephant. Gnarled bones, spine, and lead to loss of sensation in mosaic. A mutation, or long-term, condition 8 ] as attenuated forms of the disease may exist, could... The mass of extra tissue the disease may exist, there could be many people with Proteus occurs! Have grown at a elephant man syndrome rate since birth s spread by mosquitoes content, and spine.... 29 patients who met strict clinical criteria for the affected person to and. Tissues of the syndrome is also known as the `` Elephant Man.... The skull in the medical literature in 1979 elephant man syndrome 's how to it... Removing growth plates in the American medical literature in 1979 a leading cause of Proteus syndrome to a... Growth plates in the British medical Journal, Michael Cohen and J.A.R human system. Suspect it ’ s spread by mosquitoes random and not inherited or treatment severe and! Is often found to be a type of nevus syndrome are unfamiliar it really knows why this occurs! Here 's how to identify it, as well as the other symptoms…,... Anthony Hopkins, John Gielgud and Anne Bancroft when you have one the skin in medical. Estimated that fewer than 500 people worldwide have Proteus syndrome is named after the Greek god Proteus who... Noticeable by age 6 to 18 months by what experts call a mutation, or treatment,... Growths appear as they age typically in early childhood without any obvious deformities patients who met strict clinical criteria the...

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