NF1 is not the Elephant Man's disease.

Have you heard of the Elephant Man? His is a famous story: Joseph Merrick, also known as The Elephant Man, was born with severe physical deformities and lived as a circus sideshow attraction in 19th-century England.

For a long time, scientists and physicians thought that Merrick suffered from NF1. His deformities were similar to those caused by large plexiform neurofibromas, although no physician had seen a case of NF1 as severe as Merrick's. Only in the late 1980s was Merrick's condition re-diagnosed as Proteus Syndrome, a rare genetic disorder typified by overgrowths on one side of the body, enlarged hands or feet, tumor-like growths under the skin and café-au-lait spots. The signs of Proteus Syndrome and NF1 are similar, but the disorders are caused by mutations in two different genes.

• The Proteus Syndrome Foundation website
• The Elephant Man – Movie, starring Anthony Hopkins and John Hurt
• The Elephant Man – Book, by Christine Sparks
• The Elephant Man: A Study in Human Dignity – Book, by Ashley Montagu
• The Elephant Man: A Play – Play, by Bernard Pomerance