Define Elephant Man Disease

The disease that afflicted Joseph Merrick was Proteus syndrome. It is a rare congenital disorder with approximately 200 recorded cases. The exact cause of the disorder is unknown, although there is some debate over a couple of possible candidate genes - these are PTEN, a tumour suppressor and GPC3 which is involved in cell proliferation and tissue growth.

The signs of the disease are not present at birth, they develop a few years later and include benign tumours, rough skin, and unusually large hands, feet, and head. The condition was first identified in 1979.

For many years it was thought that Merrick had suffered from a genetically inherited disorder called neurofibromatosis. His DNA has been analysed for the causative NF1 gene, but the results were inconclusive. And then Proteus syndrome was postulated and is now the widely accepted diagnosis. Unlike neurofibromatosis it is not inherited and affects tissues other than nerve cells.

During his lifetime Merrick thought that his condition was due to his mother being scared of an elephant whilst she was pregnant with him.

There is no known cure for Proteus syndrome at the moment, though research trials are underway to try and find out more about its molecular basis. By knowing the genetic mutations involved scientists could start developing intervention strategies to stop this progressive disease.

Joseph Merrick died on April 11th 1890 - he was 27. Although foul play was not suspected an inquest was called. The coroner concluded that as Merrick slept the weight of his head was too much for his neck to support and he died of asphyxiation. Sir Frederick Treves the surgeon who brought Merrick to the London Hospital agreed with this interpretation as he recorded in his diary:

"He often said to me that he wished he could lie down to sleep 'like other people'. I think on this last night he must, with some determination, have made the experiment. The pillow was soft, and the head, when placed on it, must have fallen backwards and caused a dislocation of the neck. Thus it came about that his death was due to the desire that had dominated his life - to be 'like other people'".

After his death plaster casts were taken of Joseph Merrick's head and limbs and skin samples were preserved in formaldehyde, although they were lost during the Second World War. His skeleton is kept at the Royal London Hospital, but it is not on public display.