Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its hallmark lesions affecting the skin and nervous system. It is a progressive condition, but the degree to which a person will be affected is variable and unpredictable, even within families. The mainstay of management of NF1 is regular monitoring and treatment of complications. Frontline child health professionals are well placed to notice the common signs of NF1, allowing for referral to specialist care early in the course of the condition.

After studying this module, you should:

• Be aware of the cause, diagnostic criteria and management strategy for NF1
• Be able to briefly describe the wide range of clinical manifestations of NF1
• Feel more confident in recognising the signs of NF1 and knowing when to refer a patient for further assessment