Elephant Man Disease Explained

The Elephant Man is one of the most curious cases in the history of medicine. Joseph Merrick, more popularly known as the “Elephant Man”, has a strange condition that caused his bones to swell, his head to increase in size and weight, and his body to become extremely disfigured. Joseph Merrick’s case remains a total mystery to medical experts more than a century after his demise on 1890, but modern science is starting to find some clues as to what disease exactly afflicted the “Elephant Man”. This article takes a closer look at what the Elephant Man disease is.

        To have better perspective on what this condition is, it would be best to understand first the man behind the disease. Joseph Merrick was born without any symptom of a disorder, and he lived a normal life for the first few years of his life. First symptoms of a disease emerged when Merrick developed thick lumpy skin similar to an elephant’s. Also, his face becomes disfigured because of lip swelling and a bony lump on his forehead. When his family got dissolved due to his mother’s death and his father’s “rejection” of him, Joseph searched for ways to fend for himself. It would take him to a bizarre journey, from being a subject of human novelty exhibitions to being a legendary resident of the London Hospital. He died at the age of 27, with autopsy finding that the cause of death is a broken neck due to the weight of his head.

        During Joseph Merrick’s life and even long after his death, medical experts sought for answers behind the bizarre Elephant Man disease. While studies have been done while he’s alive, no doctor or scientist arrived to a formal conclusion. In 1909, Dr. Frederick Parkes Weber stated that Merrick was afflicted with neurofibromatosis type I. Caused by a mutation in chromosome 17, this disease has been accepted as the Elephant Man’s disease for almost a century. This disease is inherited by autosomal dominant inheritance, but it can also be caused by spontaneous mutation. His reasoning involves the findings of nerve and bone tumors and warty growths in the skin of Merrick.

        In 1986, Michael Cohen and J. A. R. Tibbles proposed that the Elephant Man disease is actually Proteus syndrome. Their main argument against the proposal that the Elephant Man actually suffered from neurofibromatosis type I is the absence of skin discolorations called “café au lait spots” and other histological evidence. According to Cohen and Tibbles, Joseph Merrick showed critical symptoms of Proteus syndrome including macrocephaly, hyperostosis of the skull, hypertrophy of long bones, and thickening of both skin and subcutaneous tissues.

        A compelling case can be made that either neurofibromatosis type I or Proteus syndrome is indeed the Elephant Man disease. In fact, some medical experts are even suggesting the possibility that Joseph Merrick might even be afflicted by both diseases. Due to a lack of sufficient genetic information, all predictions remain inconclusive up to this day. The hunt for the real Elephant Man disease continues.