When Skin Spots Turn Out to be Rare Disease

Our bodies are complex and unpredictable machines. We can try our best to keep them healthy, but sometimes nature does its work, resulting in something we never could have planned for. For that, you should always keep a lookout for unusual skin spots around your body.

Paul Graham Fisher, MD, FAAP, professor of Neurology, Pediatrics, Neurosurgery, and Human Biology and Susy Jeng, MD, FAAP, clinical assistant professor of Neurology and Neurological Sciences put together a lengthy discussion at the American Academy of Pediatrics called “Skin spots and brain spots: Neurocutaneous disorders.” In it, they talked about how to to look out for a number of unheard of disorders around your body in the form of unusual spots.

Among the many is Neurofibromatosis type 1 (NF1), which is a hereditary disorder that goes beyond the skin and brain and if not properly sought out for, could easily be overlooked. To learn more about this one, click here.
People could go their whole lives thinking something is a simple birthmark and could actually be carrying Sturge-Weber Syndrome.

Then there is PHACES syndrome, a new neurocutaneous syndrome that has been unearthed into the world and that most doctors haven’t even heard of. This rare disorder creates hemangiomas along the face, lips and mouth. It’s hard to see with the naked eye but it could be sourced through an ultrasound and MRI.

“You would like to think there is genetic testing, but genetic testing sensitivity is still poor, and it’s mostly going to be through good old-fashioned recognition that these things are diagnosed than through genetic testing,” Fisher says. “You have to be able to know it when you see it.”

Jeng agrees that it should be more common for people to ask about and search for birthmarks in case it isn’t something as severe as cerebral palsy.

Here’s a list of other key disorders that could appear in the form of marks on the skin:
  1. Tuberous sclerosis complex
  2. Sturge-Weber syndrome
  3. Ataxia telangiectasia

Listen to your body by taking a deeper look at what’s there. Don’t confuse that ingrown hair for something potentially fatal.

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