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Rare skin condition may cause disfiguring tumors

Those severely affected often shunned

What starts as a simple dark patch on the skin of a child can lead to a condition with devastating consequences.

"It's called neurofibromatosis, and in some people it can be severe, leading to giant tumors on one part of their body or tumors all over the surface of their skin," said dermatologist Dr. Leyda Bowes.

For John Choto, it started with one tumor on his arm. Now, much of his upper torso and face are affected.

"At first it was hard to accept, but then I said, 'There's nothing I can really do about it. I have it,' and then you just have to deal with it," said Choto.

Dealing with it is far from easy.

"Right now, there is no real good treatment option for these skin lesions," said Bowes. "If there are a lot of them covering large areas of the body, there are only so many we can surgically remove, and even then, they can grow back," Bowes said.

"You can't keep cutting them out because you'll look like a baseball, scars everywhere," said Choto.

Neurofibromatosis is a genetic disorder that causes tumors to grow in the nervous system. 

In some cases, the tumors grow internally. Others experience the external appearance on the skin.

"If you have a parent who has the gene for neurofibromatosis, you have a 50 percent chance of also acquiring or inheriting the disease from your parent," said Bowes.

The class sign is what's called a cafe au lait spot on the skin of a child.

"When we see this, it could indicate a possibility of neurofibromatosis, but certainly not everyone with a cafe au lait spot develops this condition," Bowes said.

A key indicator is the number and size of the dark patches, typically six or more that are 5 mm or larger in a child and six or more that are 15 mm or larger in an adult.

"If the disease progresses to the point of tumors, they will often continue to grow," said Bowes.  "The most important thing for people to realize when they see someone like this is to understand that they are not infectious. You cannot catch this disease."

Choto takes a philosophical approach to the disease.

"I know there are people a lot worse than me," he said. "This is what God gave me, so I have to deal with what God gave me and do the best."

To reach the National Neurofibromatosis Foundation hotline call: 800-323-7938.