Synonyms

• NF1
• von Recklinghausen disease

Category

Syndrome

Gender

Both equally

Tissue of Origin

Neural

Epidemiology

• Autosomal dominant genetic disorder
• Incidence 1 in 3,000 - 1 in 2,500
• NF1 gene mutations (tumor suppressor)
• 50% new mutations
• Lifetime malignancy risk 30-50%

Clinical Features

• Cafe-au-lait spots (diagnostic criterion)
• Neurofibromas: cutaneous, subcutaneous, deep
• Optic pathway gliomas (often asymptomatic)
• Skeletal dysplasias: kyphoscoliosis, long Bone dysplasia
• Short stature
• Learning disability in some

Location

• Skin: neurofibromas
• Skeleton: femur dysplasia, tibial pseudarthrosis
• CNS: optic pathway gliomas
• Peripheral nerves

Imaging

• MRI brain: baseline optic pathway screening
• Spinal imaging: kyphoscoliosis assessment
• Skeletal survey: dysplasia evaluation
• Regular surveillance for Malignant transformation

Pathology

• Neurofibromas: nerve sheath tumours with Variable cellularity
• Benign to intermediate
• Risk of Malignant peripheral nerve sheath tumour transformation

Genetics

• NF1 gene mutations (chromosome 17)
• Autosomal dominant inheritance
• Variable expression and incomplete penetrance

Treatment

• Surveillance primary strategy
• Surgery for painful/cosmetically significant neurofibromas
• Chemotherapy/radiotherapy for optic pathway gliomas if progressive
• Orthopedic intervention for severe skeletal dysplasia

Prognosis

• Malignancy risk: MPNST (5-13%), optic pathway glioma, other cancers
• Median survival normal if no malignancy
• Depends on neurological complications

Key Points

• SYSTEMIC GENETIC Syndrome
• NF1 mutations cause Neural and skeletal manifestations
• High malignancy risk requires close surveillance
• MPNST transformation of neurofibromas critical concern

Workup - Blood Tests

NF1 genetic testing: sequencing

Workup - Local Imaging

• Baseline brain MRI: optic pathways
• Spine MRI: kyphoscoliosis
• Skeletal survey: dysplasia assessment
• Regular surveillance MRI if neurological symptoms

Workup - Biopsy

• Cutaneous neurofibroma if diagnosis uncertain
• Essential if concern for MPNST

Workup - Staging

• Baseline whole-spine and brain imaging
• Annual ophthalmology screening

Workup - Other

• Genetics consultation mandatory
• Ophthalmology screening
• Neurosurgery if optic pathway glioma
• Orthopedic surgery for skeletal dysplasia
• Dermatology assessment

Follow-up Summary

• Annual ophthalmology screening
• Brain/spine MRI every 1-2 years
• Assess for MPNST: rapid growth, pain, increasing size
• Monitor for other malignancies
• Genetic counselling for family