Neurofibromatosis

• Autosomal dominant

• Loss of function mutation of NF1 tumour suppressor gene

• 1/1900-1/3500 people

Clinical

Malignancy

Malignant peripheral nerve sheath tumour

– evolve from plexiform neurofibroma (benign congenital lesion affecting 50%)

Breast cancer – 3.5x risk

Pheochromocytoma

Slightly increased risk of a number of other cancers

Optic nerve glioma

- 15-20% of patients

- 30-50% of these will be symptomatic

- Rarely develop after the age of 7

- Surgical treatment rarely an option

- Rarely radiation

- Chemotherapy can be considered

Hypertension

Essential hypertension and secondary to pheochromocytoma

Bone health

Osteoporosis – high incidence

Bone dysplasia

Neurocognitive and Psychiatric

Depression

ADHD

Cognitive impairment – occurs at higher rate in NF1

Pain

Headache

Peripheral neuropathy

Fingertip pain (glomus body)

Prognosis

•

Diagnosis:

•

Investigations:

DDx:

Treatment:

References

· ACMG Practice guidelines “Care of adults with NF1” Genetics in Medicine 2018