8 doctors weighed in:

Did the "elephant man" have nf1?

8 doctors weighed in
David Miller
Family Medicine
3 doctors agree

In brief: Possibly

Joseph merrick was born aug 5, 1862 in england.
Severely deformed from birth, he supported himself as a side-show exhibit. He eventually became a permanent resident of the london hospital, where he died in 1890. Although his specific diagnosis may never be known for sure, it is now suspected that he had a combination of nf-1 and proteus syndrome. http://en.wikipedia.org/wiki/joseph_merrick.

In brief: Possibly

Joseph merrick was born aug 5, 1862 in england.
Severely deformed from birth, he supported himself as a side-show exhibit. He eventually became a permanent resident of the london hospital, where he died in 1890. Although his specific diagnosis may never be known for sure, it is now suspected that he had a combination of nf-1 and proteus syndrome. http://en.wikipedia.org/wiki/joseph_merrick.
David Miller
David Miller
Answer assisted by David Miller, Medical Student
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Dr. Gerald Mandell
Nuclear Medicine
1 doctor agrees

In brief: Proteus syndrome

The elephant man had a rarer syndrome proteus syndrome.
This syndrome does not include neurofibromas. The soft tissue tumors consist of lipomas , hemangiomas, and lymphangiomas. Asymmetric bone overgrowth of hands and feet, scoliosis, enlarged heads, gyriform brainlike reduncancy of skin in feet, enlargement of one side of body, and normal intelligence.This syndrome is genetic.

In brief: Proteus syndrome

The elephant man had a rarer syndrome proteus syndrome.
This syndrome does not include neurofibromas. The soft tissue tumors consist of lipomas , hemangiomas, and lymphangiomas. Asymmetric bone overgrowth of hands and feet, scoliosis, enlarged heads, gyriform brainlike reduncancy of skin in feet, enlargement of one side of body, and normal intelligence.This syndrome is genetic.
Dr. Gerald Mandell
Dr. Gerald Mandell
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Dr. Ed Friedlander
Pathology

In brief: No

This popular claim is made and it is not true.
He has Proteus syndrome. If you look at the photos, he is far more severely involved on one side. "Elephant skin" may overlie a neurofibroma in NF1. Mr. Merrick's history and celebrity made people aware that folks with birth defects have feelings and thoughts like everyone else -- this was a breakthrough.

In brief: No

This popular claim is made and it is not true.
He has Proteus syndrome. If you look at the photos, he is far more severely involved on one side. "Elephant skin" may overlie a neurofibroma in NF1. Mr. Merrick's history and celebrity made people aware that folks with birth defects have feelings and thoughts like everyone else -- this was a breakthrough.
Dr. Ed Friedlander
Dr. Ed Friedlander
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Dr. James Ferguson
Pediatrics

In brief: No

The elephant man did not have neurofibromatosis , although many labeled his so for years.
The proper syndrome is recognized now as proteus syndrome. It is rare & sporatic in occurance but unrelated to the nf gene.

In brief: No

The elephant man did not have neurofibromatosis , although many labeled his so for years.
The proper syndrome is recognized now as proteus syndrome. It is rare & sporatic in occurance but unrelated to the nf gene.
Dr. James Ferguson
Dr. James Ferguson
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