Study examines challenges of diagnosing neurofibromatosis type 1–like syndrome Peer-Reviewed Publication JAMA Network ...

Legius Syndrome Often Mistaken for Neurofibromatosis Type 1 Legius syndrome is genetically distinct but similar to neurofibromatosis and is characterized by cafe au lait macules, axillary ...

Early-onset scoliosis is not the only sign required for diagnosis of NF-1, and such cutaneous manifestations as café au lait spots or axillary freckling are usually present as well.