Type 1 neurofibromatosis

Type 1 neurofibromatosis (NF1) is an autosomal-dominant genetic disorder with the defining features of café au lait spots, multiple neurofibromas, and iris Lisch nodules.

Diagnosis is made clinically; RNA-based NF1 mutation molecular testing to confirm the diagnosis is recommended.

The disorder is progressive, although variable; it will worsen.

Multiple organ systems are involved: skin, central nervous system, peripheral nerves, eyes, bones, gastrointestinal tract, and vascular and endocrine systems.

Presentation in a young child may be subtle.

Regular follow-up, especially of complex cases, is recommended to identify early lesions, especially malignant peripheral nerve sheath tumours.

Neurofibromatosis, type 1 (NF1) is an autosomal-dominant genetic disorder with the defining features of café au lait spots, multiple neurofibromas, and iris Lisch nodules. Additional manifestations are almost always present, including those involving the skin, central nervous system, peripheral nerves, bones, gastrointestinal tract, vasculature, and endocrine system. The most common additional manifestations are learning disabilities; optic pathway gliomas; diffuse, occasionally massive plexiform neurofibromas; dystrophic scoliosis; sphenoid wing dysplasia; renovascular hypertension; and malignant peripheral nerve sheath tumours.[1]Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.