Neurofibromatosis type 1 is an autosomal dominant disorder associated with benign and occasionally malignant nerve tumours. NF1 is caused by a gene mutation on chromosome 17 which encodes neurofibromin. NF1 is associated with optic nerve tumours, neurofibromas, freckling of the groin and axilla, cafe au lait spots, skeletal abnormalities and lisch nodules in the iris. You don't want to miss: A case Explaining the condition to families Statistics Aetiology Presentation Complications Investigations Management Links and resources: Follow us on Instagram @yourekiddingright.pod Facebook: https://www.facebook.com/yourekiddingrightpod-107273607638323/ Our email is [email protected] Make sure you hit SUBSCRIBE/FOLLOW so you don't miss out on any pearls of wisdom and RATE if you can to help other people find us! (This isn't individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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