Basic follow-up tests should include checking blood pressure and monitoring for scoliosis as well as an ophthalmology evaluation and an assessment of developmental skills. "Learning disabilities are common," she said. "Expressive language delay is the area of development most commonly affected."
Many parents ask Dr. Bird if an MRI of the brain and optic nerves is needed in children who present with multiple café au lait macules. "There is probably no correct answer to that question," she said. "There is no evidence that detecting optic gliomas before they're symptomatic translates into better outcome. So you could argue that doing an MRI, which requires anesthesia, is not worth the money or the risk."
NF1 patients with neurofibromas have a 10% lifetime risk of developing a malignant peripheral nerve sheath tumor within one of the lesions. Signs of malignant degeneration include persistent pain, a change in texture, a rapid increase in size, or development of a neurologic deficit associated with the neurofibroma.
Dr. Bird had no relevant conflicts to disclose.
Café au lait macules are usually the first sign of neurofibromatosis type 1.
The next sign, axillary freckling, is often evident in the school-aged child.
The Riccardi sign, a tuft of hair near the spine, may be present at birth and can even appear before macules. Photos courtesy Dr. Lynne M. Bird and Dr. Marilyn C. Jones