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.
