Proteus Syndrome: Symptoms and Cases of "Elephant Man Disease"
Patrick C. Griffin
Professor Kenneth Korey
Anthropology 66
December 9, 1998
Proteus Syndrome: Symptoms and Cases of "Elephant Man Disease"
I. Introduction
Proteus Syndrome is one of the most debilitating conditions known to man. It can be responsible for massive distortion of the body and may often be fatal. By far the most famous (or infamous) expression of this condition is now believed to have been that of Joseph Carey Merrick* , also known as the "Elephant Man." His example is the most extreme documented case on record.
II. Biography
Joseph Merrick lived in England in the latter half of the nineteenth century. Accounts differ as to the status of his parents during his lifetime. His father left when he was young and either died or worked in London until after his sonıs death. Of his mother, Sir Frederick Treves, Merrickıs physician, asserts that she "basely deserted him when he was very small, so small that his earliest clear memories are of the workhouse to which he had been taken" (Treves, 1923, 16). Montagu, on the other hand, states that Merrick kept a small portrait of his mother with him at all times, and that she came to visit him in the workhouse (Montagu, 1971, 41-44). Whichever is true, we do know that Merrick had a very isolated, unhappy childhood, especially as his disorder was becoming more and more pronounced.
After the workhouses, Merrick joined a number of travelling circuses, trying to scrape together enough money to live. Here, the taunts and jeers and horrified utterances of his childhood continued, until his "sole idea of pleasure was to creep into the dark and hide" (Treves, 1923, 16). Finally, Merrick ended up in London. By a twist of fate, the Mile End freakshow he was a part of was directly opposite the London Hospital, and that was how he met Sir Frederick Treves. When Treves had word of the presence of the Elephant Man right across the street, he arranged for a private exhibition, and recorded Merrickıs condition* :
There stood revealed the most disgusting specimen of humanity that I have ever seen... [he was] a little man below the average height and made to look shorter by the bowing of his back... From the brow there projected a huge bony mass like a loaf, while from the back of the head hung a bag of spongy, fungous-looking skin... The osseous growth on the forehead almost occluded one eye. The circumference of the head was no less than a manıs waist [36 inches].
(Treves, 1923, 4)
He continues by describing the massive exostoses on Merrickıs upper and lower jaws that so deformed his mouth that he was unable to speak. Both his front and his back carried the same sort of soft tissue growths as his head. His left arm and hand was normal, almost delicate, but his right limb was a massive, misshapen thing where the hand was "more like a fin or paddle than a hand" (Treves, 5, 1923). The right and left legs were deformed as the right arm had been: "unwieldy, dropsical looking, and grossly misshapened (Treves, 5, 1923).
Treves gave Merrick a hospital card which saved his life two years later. The show that Merrick was in was evicted from the store on Mile End, and after a couple of years of trying to obtain permits to show Merrick, the owner of the show decided that his Elephant Man was more of a burden than a moneymaker, and sent him back to London with no money and no means of providing for himself. When he arrived, he created such a stir that the police had to be summoned to prevent the crowd from becoming too excited. They discovered his hospital card on him, and Treves was summoned. He came and brought Merrick back to the hospital with him, and allowed him to live there, away from his tormentors.
While Merrick was there, Treves was able to further observe him, and he found that the condition did not reduce Merrickıs intelligence at all, rather "that Merrick was highly intelligent [and] that he possessed an acute sensibility" (Treves, 1923, 9). Joseph Merrick died in 1890, apparently resulting from an attempt to sleep in a reclining position. Merrickıs head was so massive and unweildy that he had to sleep with it resting on his knees, and when he laid his head down, "the massive skull was inclined to drop backwards" (Treves, 1923, 36), causing him to feel as though he were suffocating. It appeared that he attempted this one more time, but was unable to lift his head again, and the weight of his skull dislocated his neck (Montagu, 1971, 125).
III. Comparative Pathologies
Joseph Merrickıs condition was postulated in 1909 to have been caused by von Recklinghausenıs disease, or neurofibromatosis 1. Montagu supports this hypothesis. Von Recklinghausenıs is a disorder that involves "the wild proliferation of the cells derived from these neural tissues [e.g. Schwann cells] with many nerve fibers embedded in their midst together with large numbers of connective tissue cells... that produces the typical disorder of neurofibromatosis" (Montagu, 1971, 89). Lesions (growths or pitting) appear on the skin and in the bone, causing the individual to have a lumpy, deformed appearance. The nerves often reach as far as the osteoblastic cells, which are responsible for laying down new bone. In many cases, this causes ex- and hyperostoses (protrusions and overgrowths of bone, respectively) to form. The fact that there are consistent growths both in the integument (the dermal layer) and in the bone below lends some weight to the argument that there were fibromas that affected both the nerve plexi innervating the integument and those in the underlying bone.
One of the unfortunate associations this caused was the labeling of people with von Recklinghausenıs disease as having the "Elephant Manıs Disorder." It created a sort of stigma, and often made it quite difficult for people with neurofibromatosis to live with their disorder for fear that they would one day look like Merrick did. This diagnosis of Merrick, however, was held to be true for well over half a century, and had become not only the premiere case of von Recklinghausenıs, but also had slipped into everyday language, to a point.
In 1986, a new theory was proposed by Cohen and Tibbles. They believed that Merrickıs symptoms were much more consistent with a disorder that had recently been distiguished from von Recklinghausenıs. The new disorder had aptly been named after a Greek god who could transform himself in order to escape his enemies. Proteus syndrome covers a large number of different pathologies. It begins prenatally as a disorder of the mesodermal layer: that which forms most of the eventual human muscular and connective tissue (ectodermal material is generally formed into neural tissue, endoderm generally is formed into the alimentary, or digestive, canal). This disruption causes symptoms that include "partial gigantism of the hands and/or feet, hemihypertrophy, macrocephaly,... lymphangiomas, lipomas, and hĉmangiomas, as well as a number of other anomalies" (Ng, et al., 1997, 264). All of these disorders result in disfiguration and deformation, normally on a massive scale. The disorder was originally considered an extreme form of neurofibromatosis until 1979, when it was discovered to be a new disorder by Cohen and Hayden. Its name was given to it by a later group of researchers (Weidemann, et al. in 1983), who were unaware of the previous discovery (Ng, et al., 1997, 264). Weidemannıs group created seven diagnostic criteria for Proteus: gigantism of the hands and/or feet; pigmented nevi (large darkened spots on the skin); partial or complete hemihypertrophy (excessive growth on one side of the body); subcutaneous tumors-lipomas, lymphangiomas, and hemangiomas; skull anomalies and exostoses; accelerated growth; and visceral abnormalities (Ng, et al., 1997, 265). It was only a matter of time before researchers began to debate over whether or not Merrick had had von Recklinghausenıs or Proteus syndrome.
IV. Diagnostic Assesments
As is the standard for any diagnosis, one must compare the case at hand to other, similar cases, or cases of a specific condition in order to make an accurate judgment of the nature of a disorder. Proteus cases are not very common, there being about a dozen or so reported every five or six years (Clark, et al., 1987, 99). Each case, however, shows a massive deformation much like what Joseph Merrick experienced.
In their article in the British Medical Journal, Cohen and Tibbles compared Merrickıs case to that of a young boy afflicted with Proteus syndrome. The boy showed, among other things, the same form of distortion of the integument of the plantar surface, the extremely enlarged skull, and "soft tissue masses diagnosed by palpation as lipomas... noted on the chest and abdomen" (Tibbles and Cohen, 1986, 684) similar to those Merrick exhibited. There was also "severe craniofacial asymmetry, redundant skin around the nose, and a pointed chin" exhibited in the case by the age of 5 1/2. The right hand was grossly distorted, much the same way as Merrickıs. This led them to believe Merrick may not have von Recklinghausenıs, but may indeed have been afflicted with Proteus. Several other points about Merrickıs pathology did not coincide with that of von Recklinghausenıs. "Café-au-laitı spots [pigmented areas on the abdomen and chest] are present in over 99% if patients with neurofibromatosis," (Tibbles and Cohen, 1986, 685) yet Merrick exhibited none. Also, physicians have yet to see any deformations due to von Reckliinghausenıs that remotely resemble the totality of Merrickıs. "Merrick had many features of the Proteus syndrome - namely, macrocephaly; thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia [see included photos], lipomas, and unspecified subcutaneous masses; hypertrophy of long bones; and overgrowth of the skull" (Tibbles and Cohen, 1986, 685).
Later cases also show these conditions. The case of a Malay baby born in 1996 with Proteus corroborates the theory Cohen and Tibbles presented. The child had "right facial hemihypertrophy involving the pinna [ear], cheek, upper and lower lips, right half of the tongue and alveolar margin, clearly demarcated at the midline [see photos]... she had a smaller fluctuant swelling over the left side of her neck with excess nuchal folds" (Ng, et al., 1997, 264). Upon excision of the swellings, it was determined that they were lymphangiomas. The child also had macrodactyly of the feet: her first and second toes were separated by a very wide cleft. Merrick exhibited all of these characteristics.
Yet another case was that of a 18-month-old Greek boy who exhibited "macrocephaly, partial gigantism of hands and feet, pigmented nevi, and other anomalies compatible with Proteus syndrome" (Malamitsi-Puchner, Kitsiou, and Bartsocas, 1987, 119). They found that the child had hypertrophies of the head and the right leg, lymphangiomas on the trunk, and excessively long and thick fingers with clinodactyly (crossing) of the third and fourth fingers on each hand (Malamitsi-Puchner, Kitsiou, and Bartsocas, 1987, 120-1). He had all (6 of 6) of the common signs of Proteus syndrome (see Appendix C for table), many of the less-common, and few of the rare. He also exhibited a pathology much like that of Merrick, only much earlier in life.
Joseph Merrickıs pathology resembles each of the individuals who have been diagnosed with Proteus, but because he managed to survive until the age of 29 without treatment beyond some simple excisions, the condition was able to progress to such a state as to render him nearly unidentifiable as a human. He could speak, but with great difficulty, he could not be seen in public for several years after his entry into the hospital, and he could not chew or swallow without much trouble. He never experienced the mentally debilitating aspects of Proteus, however, and Treves acknowledges that he did have an intellect and an imagination that was perfectly normal, in fact, he was an avid theatre-goer, and enjoyed having intelligent discussions.
V. Conclusions
There have been many other occurrences of Proteus syndrome that are similar to the disorder that affected Joseph Merrick. Since Cohen and Tibblesı article, the theory of Proteus syndrome being the "Elephant Man disease" has become very widely accepted, but since there are no remaining tissue samples with which to disprove the von Recklinghausenıs theory, it will never be completely resolved. Even without a definite diagnosis, it illustrates, both for medicine and for all professions, both the value and the necessity of continual re-examination and questioning of accepted information.
Appendix - Osteological Discussion
Merrick suffered not only from huge growths in his cutaneous and subcutaneous regions, but also to the bone beneath. His skull had so many exostoses that it only retained its basic form on the left side, his spine suffered from terrible curvature, and his upper and lower extremities experienced much distortion. By and large, the distortion is on the right side of the body. Merrickıs skeleton reveals the terrible course his condition took in ravaging his body.
Joseph Merrickıs skull is one of the most extraordinary in the world. In a photograph from the left, we can see the basic form of a human skull, but from the right, it becomes virtually unidentifiable. There are enormous exostoses on the occipital, temporal, parietal, and frontal bones, and slightly smaller ones on all of the external bones of the skull. His mandible has a large, pointed exostosis on the right side pointing inferiorly, and a smaller, rounded one directly above it pointing superiorly. The articulation of his jaw to the skull is normal on the left, while on the right, the articulation appears to be beneath the zygomatic arch, well anterior of the glenoid fossa. The foramen magnum is partially occluded: there is an exostosis on the left side projecting towards the center of the foramen.
Merrickıs humerus was a good deal thicker than a normal specimenıs, and the articulation of the humerus to the radius and ulna appears to be twisted so that the radius articulates superiorly to the ulna, rather than medially. The coronioid and olecranon processes of the ulna arise from the medial and lateral portions of the ulna, respectively, and articulate superiorly and inferiorly with the humerus. As one can see, this is almost a 180° twist of the head of the ulna. The hand is in its correct position and orientation, but the massive deformation of the metacarpals and phalanges, as well as the growths that existed in life, rendered his hand useless for everything except maintaining balance.
Merrickıs spine and rib cage experienced little of the extraordinary exostotic growth seen elsewhere, although there was a curvature to the left due to scoliosis. His scapulae are normal, but the ribs on his right are somewhat stunted and misshapen. His right clavicle is thickened, and his sternum is bent to the right.
Merrickıs legs, feet, and pelvic girdle also suffer from this deformative process, and again, we see the effects much more clearly on the right than the left. Merrick had had a disease of the hip when he was a child that essentially obliterated his left acetabulum and femoral head and forced him to rely on a cane for the rest of his life. His right femur shows a slight thickening of the anatomical neck of the femur, but the portion of greatest interest is the lower 2/3 of the bone. There is a major hyperostosis of the diaphysis that increases as it reaches the epiphysis. The distal end of the femur is larger than normal, and is composed of what appears to be a random growth of bone, rather than an ordered structure. The left femur is only remarkable in that it is twisted inwards about 45 degrees. In both legs, the tibiae and fibulae appear to be unaffected, except for the fact that the right tibia and fibula are markedly shorter (as the right femur is larger). Merrickıs feet show the same hyperostotic condition as his hands.
Merrick could not sleep in a normal position due to the convolutions of his body, as Treves accounts:
The attitude that he was compelled to assume [due to the heaviness of his head] was very strange. He sat up in bed with his back supported by pillows, his knees were drawn up, and his arms clasped round his legs, while his head rested on the points of his bent knees.
(Treves, 1923, 36)
The overall tendency for the skeleton to be deformed towards the right is supported by postmortem measurements of bone mass.* The bones of Merrickıs right side are almost invariably heavier than those of the left (the right fibula is an exception, but it is a good deal shorter than the left). The growths that Merrick experienced during his lifetime also tended to be far more pronounced on the right side..
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