Comfortable in her own skin: How a 12-year-old embraces her rare birthmark

That was what 12-year-old Charlotte Lim told everyone and anyone who bothered to ask her about the spots on her skin, especially the large one that covered much of her body and extended down her legs.

Charlotte was born with an enlarged birthmark that now covers about 30% of her body.

“It extended from her diaphragm to her legs, and she has smaller spots on her body and face that have grown progressively larger,” her mother Esther Zheng, 43, told The Straits Times.

Zheng, a civil servant, said she was shocked when she first saw her daughter’s extensive dark markings. “She also has over 100 smaller moles on her stomach, scalp, face, arms and legs.”

What Charlotte has is a rare, non-cancerous pigmented birthmark called a giant congenital melanocytic nevus (GCMN), which can enlarge as the child grows.

The condition affects about one in 100,000 newborns, said Mark Koh, who heads the department of dermatology at KK Women’s and Children’s Hospital (KKH).

“A congenital nevus (is a pigmented mole or birthmark) that occurs due to a mutation in the genes affecting pigment cells. It occurs while the embryo or foetus is growing in the mother’s womb,” he added.

“The size of the congenital nevus depends on how early the mutation occurs during the pregnancy, with earlier mutations causing larger lesions. The size and site of the lesion also vary.”

He said that while GCMN is a genetic condition, it is not passed down from parent to child.

Koh said some patients with GCMN may have moles in the brain and spine called neuro-melanosis, which can lead to neurological problems such as weakness or seizures.

“The GCMN could also develop into a cancerous mole or melanoma, which might also occur in the brain and spine if there is neuro-melanosis,” he said.

Hair can also grow directly from the main GCMN or from smaller, scattered satellite moles that frequently accompany large birthmarks.

Koh said there is no single medical cure that permanently and completely erases a GCMN, as “it is a deep skin lesion that results from early embryonic genetic mutations”. However, there are several approaches to manage, reduce, or remove some of the lesions.

Regular dermatological monitoring is essential because there is a 3% to 11% lifetime risk of GCMN developing into skin cancer, as well as potential neurological conditions.

Other methods include surgery to completely remove the mole and laser therapy to lighten the pigmentation.

Confident tomboy

Worried about how her daughter would cope with bullying, Zheng prepared her to deal with people from a young age.

She taught Charlotte that GCMN was “nothing but a birthmark” and that if people asked about it, she should simply tell them what it was.

“And that was what she had been doing since pre-school days. Of course, before she started pre-school, we had informed the principal so that she could tell the teachers. By letting her tell her friends, classmates and teachers about her condition, we have taught her strength and confidence,” Zheng said.

Her peers and teachers came to understand her condition, and Zheng said that, surprisingly, Charlotte was never bullied, not even in primary school.

“Her friends even gave her the nickname ‘spotty leopard’, which she was fine with. They stopped calling her that as they grew older,” she added.

Charlotte loves adventure and sports, especially rock climbing, and would often cast aside her condition to immerse herself in her hobbies, but she needed to avoid sunlight as much as possible.

“We were told that because of her rare condition, there was a possibility of her developing more moles elsewhere on her body, as well as a higher risk of skin cancer,” Zheng said.

Her mother also admitted that she was worried for Charlotte, who will be starting secondary school next year, especially as spots have developed on her face.

Studies have shown that about three in 10 children with GCMN experience social isolation, bullying or exclusion by their peers.

“Charlotte met another child with GCMN at the Rare Skin Conditions Society – a little boy named Pin Hao – and they became fast friends. Pin Hao went for surgery to remove some of the spots on his face, and Charlotte made up her mind that she wanted to do likewise. I told her it would be painful, but she had her mind set on it,” Zheng said.

Surgery often requires multiple procedures and can leave scarring.

Koh said: “Smaller or ‘satellite’ moles often sprout in patients with giant congenital nevus. They can occur anywhere on the skin. These lesions may be removed if there is a cosmetic concern, like when they appear on the face. They can be removed by surgery or lasers.”

He added that surgery can remove the spots entirely, and there is a smaller chance of recurrence. Lasers are not usually recommended because of the high risk of recurrence.

“I hope Charlotte continues to be confident as she grows. After all, everyone is born to look different, and we should all feel beautiful in our own skin,” Zheng said.