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The final photograph of Joseph Merrick (around 1890), believed to have suffered from Proteus syndrome.
Royal London Hospital ArchivesIn 1998, a group of medical experts at the National Institutes of Health suggested that Joseph Merrick's condition might have been due to Proteus syndrome. Learn more about this condition and its causes:
Q: What are the symptoms of Proteus syndrome (PS)?
A: Abnormal growth of bones and tissues, leading to enlargement of hands, feet, skull, and often one side of the body. Additional symptoms include benign tumors and thickened, uneven skin.
Q: Who is Proteus syndrome named after?
A: The Greek deity Proteus, known for his ability to transform his shape to evade adversaries.
Q: How rare is Proteus syndrome?
A: It is extremely rare, with only approximately 100-200 cases reported globally.
Q: What medical treatments are available for individuals with Proteus syndrome today? Is there a cure?
A: Currently, there is no cure. Treatment involves a team of specialists managing the symptoms. This team typically includes a primary care physician, geneticist, orthopedic surgeon, reconstructive surgeon, radiologist, dermatologist, pathologist, and psychologist.
Q: When was Proteus syndrome first identified?
A: Cases were documented in medical records as early as the mid-1850s, but it was formally recognized in the late 1970s by Dr. Michael Cohen Jr.
Q: Can Proteus syndrome be inherited by the children of an affected individual?
A: Proteus syndrome is believed to result from multiple genes, with PTEN being one of them. Germline mutations in PTEN are thought to account for up to 20% of cases. If a person with Proteus syndrome has a PTEN mutation, there is a 50% chance they could pass it on to their offspring.
