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) 


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!



Monday, June 1, 2015

Chemotherapy/Radiation and Neurofibromatosis

In terms of Neurofibromatosis, chemotherapy and radiation treatments can be extremely useful for those pesky tumors that may be growing at a fast rate, growing in a location that may be deemed inoperable or used to treat tumors that are causing all kinds of unpleasant symptoms. The "theory" behind using chemotherapy for Neurofibromatosis is the same as it is for cancer... it destroys cells and prevents further growth of unwanted tumors or masses. The use of chemotherapy has been shown to be very effective in controlling the progression of optic nerve gliomas (which are usually benign) as well as malignant peripheral nerve sheath tumors. 

Now, lets talk about how these different therapies work! 

1. Chemotherapy

Chemotherapy is a medication that is most effective on cells that actively growing and dividing. Chemo drugs (which are called cytotoxic drugs) interrupt the cell cycle and slow down or sometimes completely stop rapidly growing cells ability to reproduce. Sometimes only one cytotoxic drug is needed to treat the tumor, but combining drugs will often lead to better and more long term outcomes. The goals of combining different kinds of chemo are: 

a) Killing as many cancer (or NF cells) as possible without harming the other healthy cells that are growing in the body 
b) Increases the chances of killing NF cells 
c) Decreases the chances that NF cells will mutate

Chemotherapy is most often given through an IV, which causes the medication to go directly into the bloodstream. This way, the drug can be carried around the entire body and can be delivered to body parts/systems that need it to fight tumor cells. The type of chemo drug that the physician decides to prescribe depends on factors such as: the person's age, the person's overall health, and the location of the tumor. These drugs may not kill all the tumor cells the first time they are given, and often chemotherapy cycles are continued for periods up to 6 months to ensure that the amount of "tumor death" is optimized!

2. Radiation Therapy 

 Radiation therapy is delivered by using highly specialized equipment, and works by damaging the genes in cells (which are responsible for controlling how fast cells grow and divide). Radiation damages genes by making small breaks in the DNA inside cells, which prevents these cells from growing and dividing. 

As previously mentioned chemotherapy usually exposes the entire body to the cancer drugs, however, radiation is a "local treatment", meaning it treats and affects only the parts of the body that need to be treated. The total dose of radiation given to a patient is typically divided into a number of smaller doses called factions, this is done in order to minimize damage to normal "healthy cells" while maximizing the death of NF cells. 

In order for a doctor to plan radiation treatment, a detailed imaging scan (usually a CT scan) must be obtained so that the tumor can be clearly outlined, and also to map out where healthy cells and tissues are located. During the treatment, it is VITAL that the patient is positioned in the exact same position in order to deliver the radiation to the same location each time. Apparatuses such as head molds, face masks, temporary skin tattoos and skin marks are all used to not only help position the patient, but to also keep them still during the procedure. 

I hope you've all learned something new today, comment below on what you would like to learn about in the future!