Sunday, 3 Dec 2023

Adam Pearson neurofibromatosis: What is the genetic disorder? Signs and symptoms revealed

Actor Adam Pearson, 34, will feature on BBC’s Pointless gameshow this afternoon. The presenter and campaigner is most well-known for his role in the 2013 film Under the Skin. Pearson was diagnosed with type 1 neurofibromatosis when he was five years old, in 1990. But what is the condition, and what are the signs and symptoms you should be looking out for?

Neurofibromatosis is usually diagnosed in childhood or early adulthood

Mayo Clinic

Neurofibromatosis is a genetic disorder that leads to tumours forming on nerve tissue, according to the Mayo Clinic.

The tumours, which aren’t necessarily cancerous, can cause hearing loss, cardiovascular problems, and severe pain, it said.

You should speak to a doctor if you or your child develops signs or symptoms of neurofibromatosis.

“These tumours can develop anywhere in your nervous system, including your brain, spinal cord and nerves,” said the Mayo Clinic.

“Neurofibromatosis is usually diagnosed in childhood or early adulthood.

“Neurofibromatosis 1 usually appears in childhood. Signs are often noticeable at birth or shortly afterward, and almost always by age 10.

“See your doctor if you or your child develops signs or symptoms of neurofibromatosis.

“The tumours associated with neurofibromatosis are often benign and slow growing. So although it’s important to obtain a timely diagnosis, the situation isn’t an emergency.”

Type 1 neurofibromatosis symptoms include a freckling in the armpits or groin area, a larger than average head size, short stature, and bone deformities.

The condition could also lead to flat, light brown spots on the skin. The spots are harmless, and are usually present from birth.

Other common symptoms include learning disabilities, small bumps on the eye, and even pea-sized bumps on or underneath the skin.

Neurofibromatosis is caused by genetic mutations that may be passed down by a parent.

Having a family history of the genetic disorder is the biggest risk factor for neurofibromatosis.

The condition can also lead to a number of complications, including learning and thinking difficulties, high blood pressure, vision problems, and even skeletal problems.

Rarely, tumours can put added pressure on the airways and cause breathing problems, said the Mayo Clinic.

There are around 25,000 people in the UK that have been diagnosed with type 1 neurofibromatosis.

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