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Types of Neurofibromatosis


NF-1 - von Recklinhausen's Disease   



Peripheral NF   

Central NF



1/100 000


Autosomal Dominant; 50% new mutations   

Autosomal Dominant


multi-system disease primarily affecting growth of neural tissue   

bilateral schwannomas of the 8th cranial nerve mainly

Gene locus   

Chromosome 17   

Chromosome 22

Diagnosis: (from the Consensus Development Conference, 1987)

  1. > 6 cafe-au-lait spots of at least 15mm in adult & 5mm in child.

  2. Two or more neurofibromas of any type or one plexifrom neurofibroma

  3. Axilla or inguinal freckling (Crowe's sign)

  4. Optic Glioma 

  5. Two or more Lisch nodules (Iris hamartomas)

  6. A distinctive bony lesion

  7. First degree relative affected

Clinical Findings:

1. Cafe-au-lait spots [Picture]

  • melanotic pigmentation in the basal layer of the epidermis

  • in areas of skin not exposed to the sun

  • smooth borders ('Coast of California') [cafe-au-lait spots of Fibrous Dysplasia have jagged borders = 'Coast of Maine']

2. Fibroma Molluscum

  • small neurofibroma in the subcutis

  • slightly bluish colour

  • Neurofibromas are mixed cell tumours enriched in Schwann cells plus fibroblasts, endothelial cells & glandular elements.

  • Primary cell for tumour formation is unknown

3. Plexiform Neurofibroma

  • subcutaneous

  • ropey 'bag of worms'

  • very sensitive

  • underlies areas of purplish pigmentation

  • has potential to become malignant

4. Elephantiasis

  • large soft tissue masses with rough, villous skin

  • dysplasia of underlying bone

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