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Clinical and historical aspects of the Elephant Man: exploring the facts and the myths.
Gene. 2015 Jan 15; 555(1):63-5.GENE

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+Show Affiliations

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.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.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.

Pub Type(s)

Historical Article
Journal Article

Language

eng

PubMed ID

25280594

Citation

Huntley, Catherine, et al. "Clinical and Historical Aspects of the Elephant Man: Exploring the Facts and the Myths." Gene, vol. 555, no. 1, 2015, pp. 63-5.
Huntley C, Hodder A, Ramachandran M. Clinical and historical aspects of the Elephant Man: exploring the facts and the myths. Gene. 2015;555(1):63-5.
Huntley, C., Hodder, A., & Ramachandran, M. (2015). Clinical and historical aspects of the Elephant Man: exploring the facts and the myths. Gene, 555(1), 63-5. https://doi.org/10.1016/j.gene.2014.09.056
Huntley C, Hodder A, Ramachandran M. Clinical and Historical Aspects of the Elephant Man: Exploring the Facts and the Myths. Gene. 2015 Jan 15;555(1):63-5. PubMed PMID: 25280594.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and historical aspects of the Elephant Man: exploring the facts and the myths. AU - Huntley,Catherine, AU - Hodder,Angus, AU - Ramachandran,Manoj, Y1 - 2014/09/30/ PY - 2014/06/04/received PY - 2014/09/25/revised PY - 2014/09/27/accepted PY - 2014/10/5/entrez PY - 2014/10/5/pubmed PY - 2015/1/31/medline KW - Elephant Man KW - Historical medical genetics KW - Joseph Merrick KW - Neurofibromatosis KW - Proteus SP - 63 EP - 5 JF - Gene JO - Gene VL - 555 IS - 1 N2 - 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. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/25280594/Clinical_and_historical_aspects_of_the_Elephant_Man:_exploring_the_facts_and_the_myths_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(14)01110-X DB - PRIME DP - Unbound Medicine ER -