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Neurofibromatosis

Title

Ñ    Neurofibromatosis

Definition

Ñ    Inherited condition

Characterised by:

Ñ    Multiple neurofibromas

And:

Ñ    Skin pigmentation

Aetiology

Ñ    Autosomal dominant inheritance

Pathogenesis

Two Types

Peripheral

NF 1, abnormality on chromosome 17, encodes protein neurofibromin

Ñ    Skin neurofibromas

Ñ    Multiple cafe-au-lait patches

Central

NF 2, abnormality on chromosome 22, encodes protein merlin, which is also known as schwannomin

Ñ    Acoustic neuroma

Ñ    Spinal cord tumours

Ñ    Nerve root tumours

Ñ    Meningioma

Ñ    Glioma

Ñ    Plexiform neuroma

Ñ    Cutaneous neurofibroma:

Few

Pathological Process

Solitary and cutaneous neurofibroma

Ñ    Well delineated, unencapsulated masses composed of spindle cells in highly collagenised stroma

Plexiform neurofibroma

Ñ    Loose myxoid background

Ñ    Low cellularity

Ñ    Schwann cells, fibroblasts, perineural cells, few inflammatory cells

Ñ    Axons can be demonstrated in tumour

Clinical Features

Type 1(peripheral)

E&M

Ñ    Phaeochromocytoma

IS

Ñ    Cutaneous neurofibroma

Ñ    Cafe-au-lait patches

Ñ    Axillary freckles

Ñ    Peripheral neurofibromas

CVS

Ñ    Renal artery stenosis

Ñ    Obstructive cardiomyopathy

RS

Ñ    Pulmonary fibrosis

CNS

Ñ    Lisch nodules

Ñ    Meningioma

Ñ    Orbital haemangioma

Ñ    Glioma

Ñ    Eighth nerve tumour

LMS

Ñ    Scoliosis

Ñ    Fibrous dysplasia of bone

Ñ    Local gigantism of limb

Type 2(central)

History

Ñ    1^st degree relative with NF2

Examination

CNS

Ñ    Vestibular schwannoma:

Bilateral

Ñ    Meningioma

Ñ    Glioma

Ñ    Cataract

Ñ    Retinal hamartoma

IS

Ñ    Café au lait patches

Ñ    Neurofibroma

Management

Control

Surgery

Ñ    Cosmetic reasons

Ñ    Pressure effects

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