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Hallmark Symptoms and Clinical Features of NF1-PN
Panelists discuss how plexiform neurofibromas in NF1 often emerge in early childhood with progressive growth and symptoms such as disfigurement, pain, and neurologic deficits, noting that rapid enlargement may indicate malignant transformation, and that presentation and complications differ between pediatric and adult patients.
Summary for Physicians
Plexiform neurofibromas (PN) in NF1 are typically congenital but often become clinically apparent in early childhood, with growth accelerating during childhood and adolescence. Hallmark symptoms include disfiguring soft tissue masses, pain, neurological deficits, and compression of adjacent structures (airway, spinal cord, or nerves). Rapid enlargement may signal malignant transformation.
Pediatric patients often present with progressive tumor growth, disfigurement, and functional impairment while adults are more likely to experience chronic pain and complications from large or previously stable tumors. Symptom onset, growth rate, and severity can vary widely.
