Clinical and historical aspects of the Elephant Man: Exploring the facts and the myths.

[proteus syndrome]

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 1900 s , 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 20 th 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 .

Diseases
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Diseases presenting "recent clinical diagnostic criteria" symptom

proteus syndrome

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