See Ash Leaf Macules, Think Tuberous Sclerosis
Café-au-lait macules, the hallmark clinical feature, are present in nearly all cases. The size is age dependent, with macules typically exceeding 5 mm in prepubertal children and 15 mm in postpubertal children.
“They often appear in the first few months of life and increase in number over the first couple of years of life,” Dr. Siegel said.
Axillary or inguinal freckling tends to present later in childhood, while neurofibromas begin to appear in childhood or later. “They are not usually present in infancy,” she said. “They increase in number in puberty and during pregnancy.”
Plexiform neurofibromas present in about 25% of cases in infancy. They can have associated hypertrichosis and hyperpigmentation, and can run along the lines of nerves. “It's difficult to excise them for that reason,” she said.
Plexiform neurofibromas also can be painful and, although rare, there is a risk that they will develop a malignant peripheral nerve sheath tumor.
“Because they're difficult to completely excise, it's always hard to know when they develop to cancer in the plexiform neurofibroma, or if the lesion is just growing,” she noted.
“There are a lot of clinical trials going on right now looking at various medical, nonsurgical treatments for plexiform neurofibromas,” Dr. Siegel added.
Dermatologic exams for children with NF1 should include evaluation for the presence of café-au-lait spots, neurofibromas, plexiform neurofibromas, and skinfold freckling. “Enlarging or disfiguring plexiform neurofibromas may require referral to a surgical specialist to discuss debulking or to a specialty center for enrollment in a clinical trial,” she said.
Dr. Siegel disclosed having no relevant conflicts of interest.
Viral illness can precede recurrence of the vesicular phase of incontinentia pigmenti (shown on an infant's arm).
Source Photo courtesy Dr. Dawn Siegel
Recurrence of the vesicular phase of incontinentia pigmenti (shown on an infant's leg) typically lasts 1–2 weeks.
Source Photo courtesy Dr. Dawn Siegel
