Rare genetic condition may be seen on infants as several birthmarks

Spotted more than six birthmarks on a baby? It may be a sign of a rare genetic condition, expert says

Birthmarks are common among newborns and are often viewed in some cultures as signs of good or bad fortune. However, medical experts warn that light- to medium-brown skin patches appearing in clusters of at least six may indicate a rare genetic disorder called neurofibromatosis type 1 (NF1).

NF1 is a genetic condition that affects about 1 in 3,000 people globally. It is characterized by the uncontrolled growth of tumors along nerves and may also affect the skin, bones, eyes, brain, and other organ systems.

Dr. Loudella Calotes-Castillo, a child neurologist, said NF1 can often be diagnosed in a clinical setting based on observable criteria, particularly the presence of multiple light- to medium-brown skin patches, medically known as café-au-lait spots, along with other symptoms such as cutaneous neurofibromas, or small benign tumors on the surface of the skin.

It may also be diagnosed in the presence of at least one plexiform neurofibromas, or benign tumors that develop in deeper layers of the skin.

“Whether it involves the skin alone, with bone involvement, tumors in the eye, or a genetic or family history, all of these are part of the criteria,” Ms. Castillo said in an interview on the sidelines of the world neurofibromatosis awareness month 2026 media conference led by AstraZeneca Philippines and digital agency ID8.

If the required six skin marks are not met, patients may undergo genetic testing or imaging such as X-rays to check for bone deformities, she also said.

NF1 can be diagnosed as early as infancy, with café-au-lait spots often among the first visible signs, according to Boston Children’s Hospital.

About 50% of children with the condition inherit it from a parent,

While there is currently no cure for NF1, treatment focuses on managing symptoms through surgical removal of tumors, targeted therapy, and supportive care such as therapy for children with cognitive development challenges.

Complications may include frequent headaches, scoliosis, optic pathway glioma, growth and pubertal delays, cognitive impairment, and an increased risk of certain cancers.

Ms. Castillo clarified that NF1 is not contagious and that having an affected parent does not always mean the condition will be passed on to a child.

She urged guardians to seek medical consultation once symptoms are observed.

Health experts during the conference also called for multidisciplinary care and sustained research to improve the management of NF1.

They also called for greater investment in rare disease centers and clearer referral pathways for patients with NF1.

“At AstraZeneca, we believe that every patient living with rare diseases deserves access to innovation, dignity, and a healthcare system that sees them,” Dr. Cyril Tolosa, medical affairs director for biopharmaceuticals and rare disease at AstraZeneca Philippines said.

The press conference was held in celebration of Neurofibromatosis Awareness Month, observed every May. — Edg Adrian A. Eva