Orthoteers homepage Advertise on Orthoteers
Orthoteers Junior Orthoteers Orthopaedic Biomechanics Orthopaedic World Literature Society Educational Resources Image Gallery About Orthoteers Orthoteers Members search

Neurofibromatosis

Types of Neurofibromatosis

   

NF-1 - von Recklinhausen's Disease   

NF-2

   

Peripheral NF   

Central NF

Incidence   

1/4000   

1/100 000

Inheritence   

Autosomal Dominant; 50% new mutations   

Autosomal Dominant

Characteristic   

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



This is a preview of the site content. To view the full text for this site, you need to log in.
If you are having problems logging in, please refer to the login help page.


© 2005-2007 Orthoteers.co.uk - last updated: 01 November 2007Medical Merketing and SEO by Blue Medical 
Biomet supporting orthoteersThe British Orthopedic Association supporting OrthoteersOrthoteers is a non-profit educational resource. Click here for more details
About
Anatomy Atlas
Basic sciences
Classifications
Clinical Examination
Courses
Elbow
Extras
Foot and Ankle
FRCS(Tr&Orth) Exam
Glossary
Hand & Wrist
Help
Hip & Pelvis
Humerus
Imaging in Orthopaedics
Knee
Log Book
MCQ
News
Newsletters
Orthopaedic infections & Microbiology
Orthopaedic pathology
Paediatric orthopaedics
Perioperative issues
Rehabilitation
Shoulder
Spine
Statistics
Surgical approaches
Trauma
Home
Hide Menu