NeurofibromatosisBen Saward ST3 VTS February 2012

Types

Type I- von Recklinhausen’s DiseasePeripheral

Type II- bilateral acoustic neurofibromatosisCentral

NF type I

GeneticsNF1 gene- long arm chromosome 17Autosomal dominant

Prevalence- 1 in 3000 births. All races affected

Associated with:Renal artery stenosis, pulmonary fibrosis,

cardiomyopathyPhaeochromo, optic nerve glioma, glioblastomaEpendymomas, astrocytomas, meningiomasMedullary thyroid carcinoma

NF type 1

Clinical features Skin- Café au lait (6 or more), cutaneous NF and others Skeletal- congenital bone abnormalities Nervous system- PNS and CNS tumours, seizures, learning

difficulties Eyes- pulsating exopthalmos, iris changes Others- hypertension, prec puberty

Diagnosis- clinical findings

Treatment- excision of lesions only if necessary eg mengioma

Prognosis- 75% individuals no complications

NF type II

GeneticsNF2 gene- long arm chromosome 22Autosomal dominant

Clinical featuresPredominantly central featuresBilateral acoustic neurofibromasMultiple intracranial schwannomasFew skin fibromas