Rare Diseases Symptoms Automatic Extraction

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 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.

Diseases presenting "neurofibromatosis" symptom

  • 22q11.2 deletion syndrome
  • child syndrome
  • coats disease
  • cowden syndrome
  • dedifferentiated liposarcoma
  • kindler syndrome
  • monosomy 21
  • oculocutaneous albinism
  • pendred syndrome
  • proteus syndrome
  • von hippel-lindau disease
  • well-differentiated liposarcoma

This symptom has already been validated