title: Clinical and historical aspects of the Elephant Man: exploring the facts and the myths.
abstract: Joseph Merrick, the Elephant Man, presented to the Royal London Hospital in 1884 with an obscure condition that puzzled his contemporaries, and fascinates clinicians to this day. Throughout the 1900s, a number of theories were advanced to explain the numerous growths that covered his body: neurofibromatosis, Proteus syndrome, and a combination of childhood injury, fibrous dysplasia, and pyarthrosis. The debate continued throughout the 20th century without resolution. Today, new consensus on the genetic and clinical diagnosis of neurofibromatosis and Proteus syndrome has allowed advancements in the Elephant Man's diagnosis. Using recent clinical diagnostic criteria it is now possible to conclude that Joseph Merrick was in all likelihood suffering from Proteus syndrome. Nevertheless, details of his genotype remain unknown. Obtaining intact DNA from the Elephant Man's skeleton is challenging, yet it is possible that sequencing Merrick's genome could provide genetic confirmation of his clinical diagnosis, and shed light on the process of tumourigenesis.
authors.affiliation: Centre for Orthopaedics, The Royal London and Barts and The London Children's Hospitals, Barts Health NHS Trust, Whitechapel Road, Whitechapel, London E1 1BB, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Huntley
authors.affiliation: Centre for Orthopaedics, The Royal London and Barts and The London Children's Hospitals, Barts Health NHS Trust, Whitechapel Road, Whitechapel, London E1 1BB, UK.
authors.forename: Angus
authors.initials: A
authors.lastname: Hodder
authors.affiliation: Centre for Orthopaedics, The Royal London and Barts and The London Children's Hospitals, Barts Health NHS Trust, Whitechapel Road, Whitechapel, London E1 1BB, UK.
authors.forename: Manoj
authors.initials: M
authors.lastname: Ramachandran
mesh_terms: D049672:History, 19th Century; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000266:history / Q000473:pathology* / Q000503:physiopathology; D016715:Proteus Syndrome / Q000175:diagnosis* / Q000266:history / Q000473:pathology* / Q000503:physiopathology
keywords: Elephant Man; Historical medical genetics; Joseph Merrick; Neurofibromatosis; Proteus