Neurofibromatosis causes bumps

As a teenager, Jeannine Lancaster started to see spots like mosquito bites on her arms and back. She didn’t think much of them then. A decade later, the bumps started to multiply on her face.

The bumps are neurofibromas, or tumors, which have severely disfigured her appearance over the past 18 years. Now, at age 43, Lancaster can’t escape the pointing and staring when she goes out of her home. In these situations, she smiles and hands strangers a card:

“If you’re curious, I have neurofibromatosis."

Commonly known as NF, the genetic disorder produces benign tumors within and around nerves. The tumors, which can be throughout the body, squeeze the nerves and interrupt signaling in the nervous system. Some people may not show visible bumps but instead suffer from internal effects. Learning disabilities or bone deformities may result through mechanisms not yet understood.

Megan Leaf, a special-education aide in Baltimore’s public schools, doesn’t suffer any physical disfigurement. For most of her life, she has had learning disabilities and problems with her vision and coordination.

“I don’t look like as if anything is different with me, but I might have trouble saying or seeing something,” said Leaf, 27. In elementary school, she had trouble seeing the blackboard and needed help to copy notes.

Doctors say the variability of symptoms makes NF difficult to diagnose.

“NF is a common genetic condition, which is under-recognized by both physicians and the public,” said Dr. Jaishri Blakeley, director of the Comprehensive Neurofibromatosis Center at Johns Hopkins Hospital. “All those patients don’t have a voice and often feel very self-conscious and misunderstood.“

Lancaster and Leaf are among an estimated 100,000 Americans with NF. According to the Children’s Tumor Foundation, an advocacy group, this makes the condition more prevalent than cystic fibrosis, hereditary muscular dystrophy, Huntington’s disease and Tay-Sachs disease combined.

There is no cure for any of the three subtypes of NF. But surgeons can remove tumors when they become painful or threaten normal bodily functions, such as vision and movement. In rare cases, tumors may become malignant and are treated as other cancers would be, with radiation or chemotherapy.

Lancaster underwent separate surgeries to remove tumors on her lung and neck, which were encroaching on her spine and becoming painful. But the operations have left her in more pain, she says.