Monday, June 15, 2015

The Elephant Man Disease

For quite some time, Neurofibromatosis has been mistakenly called "The Elephant Man Disease", however the man who was first called the Elephant Man  back in the 1880's actually had a condition called Proteus Syndrome... so lets learn a little bit about it!

So what is Proteus Syndrome? What causes it?

Proteus Syndrome is a rare condition that affects only a few hundred people worldwide. It is a condition that causes asymmetric overgrowth of the bones, skin and other bodily tissues, meaning some parts of the body grow faster than others. Proteus syndrome results from a mutation in a gene called the AKT1 gene. This mutation in the gene is NOT genetic, and research has shown that the mutation spontaneously arises in the early stages of fetal development. The AKT1 gene plays a vital role in regulating cell growth, cell division, and cell death. Thus, when there is a mutation in the gene, cells are able to grow uncontrollably.


When and how is it diagnosed? 

Asymmetric overgrowth usually becomes apparent between the ages of 6 months and 1.5 years, and tends to become more severe with age. Proteus syndrome is typically diagnosed based off of physical features and characteristics, however there are 3 specific diagnostic criteria that medical professionals use to diagnose this condition:

1. The overgrowth follows a mosaic (random/asymmetric) pattern
2. Complications follow a progressive curve
3. The disorder appears to be "sporadic" and appears to have no familial history


Signs and Symptoms/Complications 


  • Most commonly asymmetric bones are seen in the limbs, skull, and spine (ex: scoliosis) 
  • Blood vessels and fat (adipose tissue) can grow abnormally 
  • Abnormal skin growths can occur (thick, raised, deeply grooved lesions called cerebriform connective tissue nevus) as well as birth mark like patches called cafe-au-lait spots  
  • Distinct facial features:
  1. Long face
  2. Outside corners of the eyes droop downward,
  3. Low nasal bridge
  • Neurological deficits occur in some individuals with Proteus syndrome (these deficits include intellectual disabilities. vision loss and seizures)
  • Increased risk for developing various different types of benign tumors 
  • Increased risk for developing a blood clot called a deep vein thrombosis (DVT) 

Treatments 

Every case of Proteus syndrome, meaning there are thousands of different "treatments" out there that aim at reducing symptoms on an individual basis. There is no cure for Proteus syndrome at the moment, but some treatments that have proven to be effective for most patients include surgery to remove overgrown tissue, amputation of overgrown limbs, dental surgery and/or laser treatments to remove abnormal skin growths

Who is Joseph Merrick?

Joseph Merrick was born August 5, 1862 in Leicester, England. He began to develop several physical deformities at the age of 5 such as lumpy, grayish skin, bony abnormalities and various different tumors over different parts of his body. At the age of 17. Merrick was forced to join the workforce, and much to his dismay he found the work that he had to do almost intolerable.

In 1884, Merrick contacted a friend about becoming part of a "human oddity show", and was soon exhibited as the "Elephant Man, Half-Man, Half-Elephant" which was a huge success according to the literature.

Over the years Merrick's health began to decline, and no physicians were willing to treat him as he was deemed an "incurable". He was admitted to the London Hospital in 1890, and ultimately died due to a severed spinal cord (his head was so large and heavy due to several deformities that when his head fell backwards due to poor positioning, it severed his spinal cord). He was only 27 years old when he passed away.

It was initially thought that Merrick had Neurofibromatosis, but years later researchers deemed that he indeed did have Proteus Syndrome.






I hope you all enjoyed reading about Proteus Syndrome and how it differs from NF, now go spread some NF awareness!

Court


References:
http://ghr.nlm.nih.gov/condition/proteus-syndrome
http://emedicine.medscape.com/article/948174-clinical
http://www.biography.com/people/elephant-man-joseph-merrick



2 comments:

  1. You never fail to amaze me with the knowledge you have on these lonely conditions. It's funny that they know so much but can't come up with a cure or vene something that has some effect.

    ReplyDelete
  2. Here's hoping this information will put to rest any confusion about these two disorders. You did a fantastic job teaching us, Courtney!!! You're amazing!
    Momma W

    ReplyDelete