Medical history-Proteus syndrome： medical exploration behind ＂elephant man＂ deformity
In 1980, The Elephant Man, a drama film directed by david lynch, was widely praised in the United States, which set off a wave of research and discussion on the elephant man. The film tells a heartwarming story of the Victorian era. At the exhibition, Frederick Treves, a doctor in London Hospital, found Joseph Merrick, a seriously deformed elephant man. He was deeply touched and selflessly brought him to the hospital for medical treatment and life relief, thus changing the life track of the elephant man. It was also the treatment of Dr. Treves that started the medical research of "Elephant Man" that has been going on since the 1980s. With the development of medical technology, the deepening of medical exploration and the emergence of more similar patients, this medical problem that has plagued the medical community for more than a hundred years has gradually become clear.
Dr. Frederick Treves
Joseph Merrick was born in Leicestershire, central England in 1862. When he was born, he looked healthy, just like a normal baby, but when he was 5 years old, his skin began to show gray stripes and his body showed initial symptoms. Later, because his mother died, his father remarried, and a series of family changes, Merrick dropped out of school to find a job, and worked as a cigarette and a small trader. With the growth of age, Merrick’s deformity becomes more and more serious. People are either afraid of him or don’t understand what he says, and it becomes more and more difficult to make a living. At the age of 17, Merrick moved into the workhouse, which was the only way to support himself. In 1884, Merrick contacted Sam Torr, the owner of the freak show, and left the workhouse to start his career as an elephant man. In England in the 19th century, the freak show has become a popular pastime, which is widely welcomed by people from all walks of life and attracts the attention of many medical professionals. It is also at the scene of the freak show that Dr. Treves discovered Merrick."Elephant Man" has a set of explanations for his deformity: "My deformity is because my mother was frightened by elephants when she was pregnant. At that time, the circus was performing in the street, and my mother was walking along the street. Unfortunately, she was pushed to the foot of the elephant and was always terrified. This is the reason why I am deformed. " This explanation is called "Maternal Impression", that is, the shape of the unborn child may be changed by the mother’s experience during pregnancy.
In 19th century England, "maternal influence" was a very popular concept, which was often used to explain many malformations. For example, a baby born to a white mother had a black mark, which would be interpreted as the mother being frightened by a "black moor" during pregnancy. A newborn’s hands are marked with bright red marks, which may be because the mother is too fond of lobsters during pregnancy and so on. At that time, the deformity was often attributed to the pregnant mother. If a woman experienced fear during pregnancy, or liked a certain food very much, or witnessed something unusual, her child would be marked accordingly.
Although the public accepted the explanation of this etiology, there was controversy and discussion in the medical field at that time. Among many medical explanations, one explanation is that babies and pregnant women are linked through the placenta, and the emotional and nervous fluctuations of pregnant women will inevitably be transmitted to the baby through the placenta, thus affecting the growth of the baby; However, some people questioned this view, suggesting that the placenta does not transmit nerve effects, but only transports nutrients. Obviously, "maternal influence" is only a simple explanation of deformity, and the diagnosis and treatment of "elephant man" can not suit the right medicine, nor has it been widely affirmed by the medical community.
Dr. Treves is a famous British surgeon and anatomist. He was famous for performing appendicitis surgery on the soon-to-be-crowned Edward VII in 1888, and was praised as one of the most outstanding surgeons in Victorian era in 1900. He described Merrick’s symptoms in detail in his memoirs:
His huge and deformed head has a huge bone lump swollen on his forehead, and the brown skin at the back of his head is spongy. The abnormal growth of the forehead bone almost blocked one eye. Another big bone grew from the upper jaw of his mouth, which made his words blurred and drooling. On the whole, his face is like a rough piece of wood, without any expression. The meat on the back hangs down to the middle of the thigh like a sack, and it is also covered with disgusting brown skin, as is the skin on the chest. The right hand can hardly be used, as big and stupid as a fin. On the contrary, the left hand is normal and the skin is smooth. The lower limbs are also deformed and clumsy.
Judging from the research on the symptoms of Elephant Man, the early medical circles thought that Elephant Man suffered from Elephantiasis, a disease caused by the infection of filamentous worms spread by mosquitoes, which is very common in tropical areas. In the late 19th century, the cause of elephantiasis was still unknown, until Patrick Manson, a Scottish doctor who was later known as the "father of tropical medicine", found in his research that there were embryos laid by worms in the affected area of the patient and appeared in the patient’s blood. He also observed the dead mosquitoes on the microscope glass and found that there were similar parasites in the mosquitoes’ stomachs. It can be inferred that pathogenic worms are transmitted from person to person through mosquitoes. They penetrate the skin and settle in lymphatic vessels, and then continue to multiply, leading to lymphatic obstruction and inflammation, as well as hypertrophy of skin and subcutaneous tissue. What is more special is that there are few obvious symptoms before the age of 15, and it mainly affects the legs and external genitalia. Skin ulcers, cracks and discoloration are more common. Representatively, the symptoms of "elephant-like human" skin are relatively consistent, but after careful comparison, elephantiasis does not endanger bones, and there is no fibrous tumor, which is inconsistent with the symptoms of elephant-like human bone deformity and fibroma all over the body.
According to the information about "Elephant Man" provided by Treves, Henry Radcliffe Crocker, a British dermatologist, speculated that Merrick might suffer from a combination of skin relaxation and neuromatous elephantiasis and an unknown bone deformity, and proposed to link these diseases with neurological diseases. Treves reached a consensus with him on this issue, from single disease to comprehensive disease diagnosis, and from skin disease to nervous system.In 1909, Frederick parks weber, a doctor at St Bartholomew’s Hospital, further suggested that Merrick suffered from Von Recklinghausen’s Disease, later called Neurofibromatosis, which was named after the German pathologist Friedrich von Recklinghausen. "Elephant Man" was specifically diagnosed as multiple neurofibroma type I, and the symptoms of type I were milk coffee spots and neurofibromatous skin tumors, which were often accompanied by various deformities and other diseases. For most of the 20th century, "Elephant Man" was generally regarded as a patient with neurofibromatosis. With the research entering a new field, this diagnosis was questioned in the 1980s. Nevertheless, it is still of great significance in the medical diagnosis of Joseph Merrick’s illness.
Dr. Frederick Parks Weber
In 1986, Dr. Friedrich von recklinghausen (M. M. Cohen) and J.A.R. Tibbles (J.A.R. Tibbles) wrote in the British Medical Journal that Merrick was suffering from Proteus syndrome and congenital disorder. Although Merrick’s condition is similar to neurofibromatosis, some aspects of his body do not directly correspond to the diagnosis. In Treves’s and dermatologist Crocker’s detailed examination report on Merrick, there are no two important features of multiple neurofibroma type I: milk coffee spot or axillary freckles, and both of these features exist in 99% patients with multiple neurofibroma type I. On the contrary, Cohen and Dubles said that Merrick showed the following characteristics of Proteus syndrome: large skull deformity; Bone hyperplasia of skull; Hypertrophy of long bones and thickened skin and subcutaneous tissue, lipomas and other unknown subcutaneous masses. Prologis syndrome has a stronger effect on body tissue than neurofibroma.Proteus is one of the sea gods in Greek mythology, and it is said that he is the son of Poseidon. He knows everything about the past, present and future, because he doesn’t want to disclose what he knows. Whenever he is caught, he will run away in various forms. The word "protean" comes from Proteus, which means "changeable in shape or form". It was a German doctor named Hans-Rudolf Wiedemann who first linked Proteus with "Elephant Man Disease". In 1983, he named this congenital disease "Proteus Syndrome", which is an extremely rare disease. It is estimated that only one person will get sick in every one million people in the world.
It was not until 2011 that the medical community generally recognized Proteus syndrome as the result of AKT1 (a protein kinase) mutation. Abnormal genes exist in some cells, which will produce an abnormal protein and increase cell proliferation, while unaffected cells behave normally. With the identification of genetic basis and the development of consistent international diagnostic standards, many uncertainties of the syndrome have been overcome. Unfortunately, there is no effective treatment for Proteus syndrome at present, and early detection and symptomatic treatment are the main ways. It is common for patients to deal with skin abnormalities, including regular assessment of lesions to ensure that lipomas and vascular malformations will not cause more serious problems; Use laser treatment to remove blood vessel spots on skin, such as wine spots and capillary hemangioma; If the lesion interferes with functional activities or for cosmetic purposes, surgical resection can be performed.
Back to the elephant man, Dr. Treves met the elephant man at the freak show. With the in-depth development of capitalism, the entertainment in the 19th century has surpassed the form of gathering acquaintances in the old days, forming a relatively mature industrial chain, and the gathering of public demand. Driven by market interests, the combination of freak show managers and freaks has made the organization and management of freak shows more large-scale. In British society, it has set off a popular trend of grotesque shows. It is this social environment that provides the soil for the cultivation and production of "elephant man". "Elephant Man" is not a real species, but a manager’s propaganda in the form of "hype" in order to attract more visitors and gain greater benefits. Although Merrick doesn’t have the characteristics of an elephant in appearance, the canvas poster outside the exhibition hall reads "A man with the characteristics of an elephant", and all the words and sentences in the performance brochure reflect his elephant-like characteristics, emphasizing that his right hand is almost the same size and shape as the elephant’s front leg, and his thick and bulging skin is like the elephant’s skin, shaping Merrick into a miraculous image of half man and half beast.
Undoubtedly, the image of "Elephant Man" is carefully created by managers for the audience, and it is actually a "new species" constructed under commercial interests. At that time, there was not a clear distinction between the popular explanation and the professional explanation of deformity, and the right to explain the deformed body was not fully accepted by the medical profession, so managers were given a variety of different explanations. Merrick’s brochure insisted that although he was deformed, he didn’t feel any discomfort, suggesting that Merrick was not sick and didn’t feel pain, so as to appease the audience and reduce their discomfort. Explaining "Elephant Man" as a healthy person from the manager’s description actually drags the professional medicine to make the concept of deformity sick, but at the same time, the manager publicizes the medical significance of the deformed body of "Elephant Man", making the deformity show both entertaining and educational, attracting many medical professionals, and Dr. Treves is one of them. Dr. Treves’s concern and care for "elephant man" actually brought the deformity of "elephant man" into the category of diseases, which promoted the explanation of Merrick’s deformity in medicine. Looking back on the medical exploration behind the elephant-like human deformity for more than a hundred years, it is precisely here that it began. From the early discovery and description of the disease, to the misdiagnosis of neurofibromatosis, and finally to the diagnosis of Proteus syndrome, with the change of medical concepts and research, it is the embodiment of the responsibility of several generations of medical people. This is easy to be associated with the occurrence of medical historical narrative, and in a sense, it is precisely because of caring for people.
Merrick’s life has changed dramatically since he entered the hospital in London, because Francis Carr Gomm, the dean, told the story of "Elephant Man" in The Times, and Merrick got the attention of all walks of life. Subsequently, an endless stream of visitors came to Merrick’s ward to express their condolences to him, so he was pulled into the rapidly expanding social circle from the isolated small room and even visited by the Princess of Wales. During this period, Merrick learned to associate with people, no longer afraid of crowds, and his life gradually normalized. But one day in April, 1890, Merrick was found lying on his back in bed, choking to death. Because of his physical deformity, Merrick had to rest with his back against the pillow, his arms around his legs and his head on his knees for a long time. It was always his dream to lie down and sleep like ordinary people. Dramatically, in the end, he was lucky enough to die peacefully with the gesture he could desire.
reference data
1.Montagu,Ashley, The elephant man: A study in human dignity, New York: E. P. Dutton,1979
2.Treves, Frederick, The Elephant Man and other reminiscences, London: Cassell And CompanyLtd.,1923
3.J.A.R.Tibbles, M.M.Cohen, The Proteus Syndrome:The Elephant Man Diagnosed, British Medical Journal(Clinical Research Edition), Vol.293, No.6548(Sep.13,1986), pp.683-685
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