Neurofibromatosis type 1 (the most common one)

Neurofibromatosis type 1.

Boyd KP, Korf BR, Theos A.

J Am Acad Dermatol. 2009 Jul;61(1):1-14; quiz 15-6. doi: 10.1016/j.jaad.2008.12.051.

• Neurofibromatosis is also called Von Recklinghausen’s disease and affects one individual out of 3500. It is part of the phacomatoses and is inherited in an autosomal dominant fashion (mutation on chromosome 17)

• The review goes through the skin changes present in NF1 which include:
  • Neurofibromas: these present as rounded promenine flesh-like bumps.
  • Café-au-lait macules: big tan patches
  • Axillary freckling (also called Crowe’s Sign): …

• It also goes through the non-cutaneous changes.
• Finally it gives possible management advice.

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Contributors

Dr Christophe Hsu – dermatologist. Geneva, Switzerland