Neurofibromatosis

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Neurofibromatosis is a genetic conditions, also known as von Recklinghausen's disease. It is abbreviated as NF.

It comes in two flavours:

  1. Neurofibromatosis type 1 - NF1 (peripheral).
  2. Neurofibromatosis type 2 - NF2 (central).

Neurofibromatosis type 1

  • Autosomal dominant.

Diagnosis

Features (need 2/7 to diagnose):[1]

  1. Two or more neurofibromas or one plexiform neurofibroma.
  2. Café-au-lait spots.
  3. Freckles in axilla or inguinal area.
  4. Optic nerve glioma.
  5. Iris hamartomas (Lisch nodules).
  6. Sphenoid dysplasia or typical long-bone abnormalities (e.g. bowing).
  7. First-degree relative with NF1.

Mnemonic

Diagnostic criteria CAFE SPOT:[2]

  • Café-au-lait spots.
  • Axillary or inguinal freckling.
  • neuroFibroma (two or more) or plexiform neurofibroma (one).
  • Eye hamartomas (Lisch nodules).
  • Skeletal abnormalities, e.g. sphenoid dysplasia, leg bowing.
  • Positive family history. †
  • Optic Tumour (optic nerve glioma).

Note:

  • † One could include paraganglioma here.

Images

  • Café-au-lait spot (WC/Haymanj)

  • Café-au-lait spot (WC/Accrochoc)

  • Lisch nodule (iris hamartoma) in the eye (WC/filip em)

  • Multiple neurofibromas of the skin in NF1 (WC/Enigma51)

  • Multiple neurofibromas of the skin in NF1 (WC/Enigma51)

  • Large neurofibroma in a NF1 case (WC/jensflorian)

  • Neurofibromatosis in the bowel (WC/Dr. Robertson)

  • Malignant peripheral nerve sheath tumor of the forearm (WC/drbloodmoney)

Others

Possible association

Neurofibromatosis type 2

  • Caused by mutations in the NF2 gene;[6] this gene is also known as merlin.[7]

Diagnosis

Features (need 1/3 to diagnose):[8]

  1. Bilateral CNVIII masses on imaging.
  2. Unilateral CNVIII mass + first-degree relative with NF2.
  3. First-degree relative with NF2 and 2/4 of the following:
    1. Meningioma (meningothelial meningioma).[9]
    2. Glioma.
    3. Schwannoma.
    4. Juvenile cataract.

Mnemonic MISME:[10]

See also

References

  1. ↑ URL: http://emedicine.medscape.com/article/1177266-overview. Accessed on: 3 May 2010.
  2. ↑ URL: http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria. Accessed on: 30 May 2011.
  3. ↑ Alexakis, N.; Connor, S.; Ghaneh, P.; Lombard, M.; Smart, HL.; Evans, J.; Hughes, M.; Garvey, CJ. et al. (2004). "Hereditary pancreatic endocrine tumours.". Pancreatology 4 (5): 417-33; discussion 434-5. doi:10.1159/000079616. PMID 15249710.
  4. ↑ Agaimy A, Hartmann A (October 2010). "[Hereditary and non-hereditary syndromic gastointestinal stromal tumours]" (in German). Pathologe 31 (6): 430–7. doi:10.1007/s00292-010-1354-6. PMID 20848108.
  5. ↑ Castoldi, L.; De Rai, P.; Marini, A.; Ferrero, S.; De Luca, V.; Tiberio, G. (2001). "Neurofibromatosis-1 and Ampullary Gangliocytic Paraganglioma Causing Biliary and Pancreatic Obstruction.". Int J Gastrointest Cancer 29 (2): 93-98. PMID 12754392.
  6. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 101000
  7. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 607379
  8. ↑ URL: http://emedicine.medscape.com/article/1178283-overview. Accessed on: 3 May 2010.
  9. ↑ URL: http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm. Accessed on: 26 October 2010.
  10. ↑ URL: http://emedicine.medscape.com/article/342667-overview. Accessed on: 20 February 2012.
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