Did Joseph Merrick, known as “elephant man,” have Proteus Syndrome?

Joseph Merrick had , by all account , a short and miserable life in which he was displayed as a carnival attraction call “ The Elephant Man . ” He was always a subject of medical oddity , but the cause of his condition has remained a mystery story . The most likely contender is a recently - key out genetic shape called genus Proteus syndrome .

Joseph Merrick was born in 1862 , and lived only twenty - seven years , most of them filled with a Dickensian amount of misery . The first abnormalities in his outgrowth set out when he was a child . His female parent died of pneumonia when he was eleven . He was kick out of his house by his father and novel stepmother when he was seventeen , after being beaten for not earning enough money in his father ’s shop . He work on for four years in a workhouse before becoming a part of a “ carnival of oddities . ” He was telephone The Elephant Man , because his condition was attributed to his mother being knocked over by a circus elephant while she was fraught . He did adjoin a Dr. once but decline to remain in a hospital because , he feel , doctors were more ill - mannered than carnival meeter . After being beaten and robbed in a carnival in mainland Europe , he made his way back to an English hospital . There he became a cause célèbre for the last few years of his aliveness . He died deliberately , doctors think , by sleep on his back , which caused his toilsome head to displace parts of his neck and suffocate him .

His fame , and the mystery of his condition , lived on long after he die . Dr. never stopped look for the cause of his syndrome , combing through his family history , looking for similar medical pillow slip near where he grew up , and then search around the worldly concern for others with the same asymmetric maturation of osseous tissue , skin , and organ tissue . Although through the age there were plenty of similar cases , it was only in the 1980s , when plastic film and stagecoach production of Merrick ’s life brought him to democratic attention once again , that modern aesculapian researchers began to look for the cause of his syndrome .

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At that point people were begin to peer into genetics . In the mid-1980s , investigator meditate that Neurofibromatosis type I caused Merrick ’s condition . The condition is split equally between those who inherit it and those whose genes mutate spontaneously . If a sealed factor on chromosome 17 mutates , non - cancerous growths produce in the pinched and sinewy scheme . Like Merrick , people with Neurofibromatosis eccentric I often have especially bountiful growths on their skulls . Unlike him , they lean to have tan slur on their peel , and also have epileptic seizures .

In the early 2000s , a new diagnosis was aim for Merrick – Proteus Syndrome . The syndrome was first described in 1979 , and feed the name of Proteus , the Greek divinity who could change his form at will . alternatively of a maybe inherited gene disorder , this is a spontaneous type of mosaicism . Mosaicism is a experimental condition in which two different sets of DNA are present in the same soundbox . It takes many forms , from different - dark-skinned eyes or multi - colored skin , to more hard wellness issues .

In Merrick ’s case scientists opine that gene AKT1 mutate , sometime early in foetal development . That one mutated cistron in one electric cell divided and divided , spreading to unlike areas of the body , making his body a patchwork of cells that had the mutation and those that did not . ATK1 mold cell growth and division , and the mutation leads to spontaneous explosion of cell growth . How dramatic and damage the growth is depend on what period during fetal development the mutation bump . If it is relatively late , and the cell does n’t get a probability to separate and spread throughout the eubstance , it can be very minor . In Merrick ’s case , the cistron mutated early and spread to many part of his body . As a result , he was affected in many areas , though he was moderately favourable in that the disorder did n’t cause growth in his heart or flighty system , which might have killed him very early in life .

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Although genetical trial done on Merrick ’s skeleton were inconclusive , he had certain specific characteristic of Proteus Syndrome . The tissue paper growth , which bear on for as long as he inhabit , was across-the-board . But it seemed to only bound off sure areas of his body . The growths were much heavy , overall , on the right side of his body than they were on the left side – and this corporal asymmetry is one of the signs of Proteus Syndrome . The oncoming of the syndrome , between six and eighteen months , agrees historically with the beginning of Merrick ’s growth jet . The only ten-strike against it is the fact that he did n’t seem to have any heart or nervus problem .

No one knows precisely how many people in the world have Proteus Syndrome . Most doctors think that the syndrome affects less than one person in a million worldwide . However , because of the celebrity of being associated with Merrick , one of the major problems with Proteus Syndrome is over - diagnosis . Although one drug has been try as a treatment , it is not entirely sure whether the drug is effectual or if it treats disorderliness interchangeable to Proteus Syndrome . Overdiagnosis have in mind doctors may be dictate it in case that are similar to Proteus but not really the upset . for make progress on treatment , doctors are attempting to find a way of clear separating this genetic disorder from any other . Perhaps the effective thing for Proteus would be a retesting of Merrick ’s remains to have it formally brush aside as a potential diagnosis for him , separating it from his fame .

Mosaicism mental image : National Genome Research Institute

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