Neurocutaneous melanosis

When baby Weston was born, there wasn’t the usual oohing and aahing from the nurses. Instead, his mom, Kimi, heard only concern.

“A nurse said, ‘What is that?’ and then she took him away. I didn’t understand what was happening,” says Kimi Phelps.

Weston had hundreds of brown and pink spots, some very tiny, some larger, on his face and head and down his spine. It was congenital melanocytic nevi (CMN), a fairly common birthmark that usually doesn’t cause health problems but may be associated with a rare congenital syndrome called neurocutaneous melanosis (NCM).

“I googled it in the labor room and started sobbing. I was thinking, ‘Did I cause this? Is it my fault?’ I felt so alone because I had never met another baby with it. And I asked, why, why did this happen to my son?” Kimi says.

With NCM, the spots, called nevi, are inside the body, not just outside. In other words, melanocytes, the pigment-producing cells that are on the skin, are also in the nervous system—in the brain and the spine—where they are at risk for growing and pushing on the central nervous system or becoming cancerous. The National Organization for Rare Disorders estimates that just 50,000 people in the U.S. have NCM.

To determine if Weston had NCM, he needed an MRI imaging scan under anesthesia, something his home hospital didn’t provide for newborns. They referred Kimi and her husband, Nathan, to Stanford Medicine Children’s Health.

The first doctor the family met at Stanford Children’s was Shehla Admani, MD, board certified in Pediatric Dermatology, who has experience managing CMN and other common and rare skin disorders in children.

“When looking at moles or nevi, we look for features that make us worry about melanoma. I examined each of Weston’s nevi and used a dermatoscope to evaluate their pigment patterns,” Dr. Admani says.

“Dr. Admani told me Weston’s nevi were beautiful and had beautiful borders. Thankfully, she didn’t see any indication they were cancerous,” Kimi says.

Despite Weston’s nevi looking good, Dr. Admani still wanted an MRI, since he had larger nevi, which can be associated with abnormal findings in the brain. She sees small nevi every day, but larger ones are not as common.

“When we see high-risk nevi, we order imaging scans to check for neurocutaneous melanosis. It’s rare, and it requires multidisciplinary care, which is where Stanford Children’s shines,” Dr. Admani says.

Dr. Admani immediately connected the Monterey, California, family to Pediatric Neurology because she knows that it’s shocking for parents to hear their newborn might have a rare condition, and providing care quickly helps alleviate worry.

“By plugging Weston and his family in to the specialists he needed right away, we helped them navigate the diagnosis and learn what it might mean for them,” Dr. Admani says. “Having everyone on the same page giving a consistent message—all looking out for him—is the power of our multidisciplinary care.”

The family met with Susy Jeng, MD, board certified in Child Neurology. When the MRI took four times longer than Kimi anticipated, she suspected that Weston might have NCM. While it was excruciating to wait, she appreciated the thoroughness of his diagnosis.

“They really made sure they got an image of every single nevus,” Kimi says. “When they diagnosed NCM, it wasn’t what I wanted to hear, but Dr. Jeng and her intern were amazing. I was emotional, and they brought me back to earth.”

Good news followed the hard diagnosis: Weston didn’t have any brain abnormalities or extra fluid. “We saw areas of melanosis in the brain, but we didn’t see anything concerning. He looked great,” says Dr. Jeng.

The plan is to keep a close eye out for symptoms that the melanosis is growing or changing. Since MRIs require children to be sedated, they are done as infrequently as possible.

“Neurocutaneous melanosis is very rare, and we don’t have a framework to predict outcomes,” Dr. Jeng says. “Kimi and Nathan really understand that. They accept that we have to take it one step at a time.”

Yet coping with the unknown has been hard on the family. Along with cherishing every minute they have with their happy, beautiful baby boy, they’ve had bouts of anxiety and depression.

“It’s scary that at any moment it could become active,” Kimi says. “You think it’s your fault, but it’s not. I know it is a horrible diagnosis, but he is so cute and happy, and so loved.”

While NCM has no known cure or treatment, getting a genetic test helped Weston’s doctors consider the best interventions down the road. Dr. Admani connected the family to the Genetic Disorders of the Skin Program so they could learn more about his disease.

“We know that large congenital melanocytic nevi are due to genetic mutation in the tissue where the nevi are,” says Joyce Teng, MD, PhD, board-certified in Pediatric Dermatology with a specialty in genetic conditions. To check for the mutation, Dr. Teng performed a biopsy, taking samples of Weston’s cells from a larger nevus and sending them for molecular analysis. She consulted with Weston’s parents about the risks and benefits before the biopsy and talked with them about what the mutation could mean for him.

After the tests came back, she confirmed that Weston had the mutation, including a less common fusion of mutations.

“Many cancerous cells carry this particular gene rearrangement, so this discovery has identified a potential target for future care,” Dr. Teng says.

Since NCM can affect the eyes, Weston is being followed by a Stanford Children’s ophthalmologist. He also has received voice and swallow therapy for a swallowing issue and gastroenterology care for reflux.

“Being able to go to Stanford Children’s and see a team of specialists for everything Weston needs is wonderful. It’s so easy to get care, and continuation of care, because it’s like one big working network. They are all there, and they all talk with each other,” Kimi says.

Today, Weston is approaching 18 months. Kimi describes him as a “huge cuddle bug.” He recently learned how to blow kisses. “My heart melts when he gives me hugs. He’s always smiling and happy, and he will hug anybody,” she says.

Weston receives regular checkups from his neurologist and dermatologist to watch for any changes. So far, so good. The doctors have helped the military family make care plans for when Nathan finishes his naval postgraduate work and they leave California.

Kimi and Nathan have found comfort and hope in helping to create a community of parents with children who have CMN or NCM. It started with an Instagram page for Weston to keep family, friends, and military friends updated.

“My motivation was to record memories, but all of a sudden people reached out to me, saying their daughter has NCM or they grew up with CMN. I’ve met people from all over the world,” Kimi says.

When she takes Weston out, people comment on the large nevus on his head that grows hair and say it is beautiful and unique. Weston’s older siblings’ friends also comment, saying they “love his big freckle.” It has helped Kimi to see all of Weston, including his nevi, as beautiful.

“He’s different, and different is beautiful,” she says.

Kimi sees purpose in Weston’s condition, as a way to bring people together. She’s passionate about raising awareness about the two conditions. Nathan happily takes on extra responsibilities with Weston to free Kimi up to advocate for better CMN and NCM care and research. Recently, she joined the awareness committee of Nevus Outreach for families with children who have CMN.

“It’s really unique to see parents reaching out to others and creating a community. Usually, having a child with a rare disease is so overwhelming, you are just trying to survive. Kimi is amazing,” Dr. Jeng says.

In 2023, Weston was named a Patient Hero at the Stanford Children’s annual fun run, the Summer Scamper. Nathan pulled together a team called “WildWeston,” inviting his fellow Marines and their families to join in. It was his way of putting his love for his son into action, and Team WildWeston raised over $2,000 for patients of Stanford Children’s.

“The Phelpses are wonderful. They create a positive atmosphere for their children, teaching them that different is normal and beautiful,” Dr. Admani concludes.

https://healthier.stanfordchildrens.org/en/family-turns-newborns-rare-diagnosis-into-something-beautiful/