BaiBoo

SINGAPORE: When Maggie (not her real name) was born, her parents thought that the café-au-lait spots on her body were harmless birthmarks. Little did they suspect that the flat, coffee-coloured birthmarks were a tell-tale sign of a medical condition.

Now in her 20s, Maggie has neurofibromatosis, a neurological genetic disorder which causes benign tumours (called neurofibromas) to form on the nerves or other tissue.

Maggie’s case is an example of how seemingly harmless birthmarks could be a harbinger of other more serious medical disorders.

Dr Mary Daniel, head and senior consultant of the neonatal ambulatory services at KK Women’s and Children’s Hospital, estimated that about one in five children are born with up to three café-au-lait spots. In most cases, these spots are harmless.

But in pre-pubescent children, six or more café-au-lait spots, each larger than 5mm in diameter (or larger than 15mm after puberty), could be a tell-tale sign of neurofibromatosis type 1, said Dr Derrick Aw, a dermatologist of the University Medicine Cluster at National University Hospital.

From just “several spots” at birth, the café-au-lait spots on Maggie’s body multiplied as she grew up. Now, she has more than 100 neurofibromas of varying sizes on her body and face.

Over the years, Maggie has gone through several surgeries to remove these tumours.

“Large birthmarks on exposed parts of the body can cause emotional distress to the child,” said Dr Daniel.

However, the problem is more than cosmetic. The disorder is also linked to medical complications such as high blood pressure, and hormonal and skeletal abnormalities, added Dr Aw.

Café-au-lait spots are just one type of birthmark linked to a medical condition.

According to Dr Daniel, a large port-wine stain on one side of the face, covering the cheek and eyes, may also indicate a rare and serious neurological disorder called Sturge-Weber syndrome, as well as conditions such as glaucoma, an eye disease.

While many birthmarks, such as Mongolian spots (birthmarks which look like bruises) and stork bites (salmon-coloured patches on the head and neck) typically fade away on its own as the child ages, others can grow larger or become cancerous over time.

For instance, a strawberry hemangioma – a red, raised birthmark caused by an overgrowth of blood vessels – is typically harmless in infants.

“A haemangioma may start growing and become larger after birth. However, in most cases, the blood supply does not keep up with its growth and it eventually shrinks until it disappears by the time the child is between three to 10 years old,” said Dr Daniel.

However, Dr Aw added, they can continue to grow, ulcerate, bleed and block other parts of the face such as the eye.

“In such unusual circumstances, the physician will usually recommend treatment options such as steroid injections or oral steroids,” he said.

So, when should parents be worried about their child’s birthmark?

“Some tell-tale signs of alarm are when the lesion is huge, say, bigger than a palm’s size; if there are several other similar lesions; or if the birthmark is causing symptoms such as bleeding or pain,” said Dr Aw.

While harmless birthmarks may be removed for cosmetic reasons, Dr Aw said it is important to first make sure that the patient does not have other medical conditions associated with the birthmark. If there are alarm signs, see a doctor, because early intervention is crucial in certain cases.

Mark of danger

Certain birthmarks could be a harbinger of serious medical disorders. Some tell-tale signs of alarm are:
• When the lesion is huge (for instance, if it’s larger than the size of a palm);
• If there are several other similar lesions;
• If it is causing symptoms such as pain, ulcers, bleeding – (CNA/Today)