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Neurofibromatosis type 1 (NF1) 🧬
For education and revision only. Check current NICE/BNF, specialist guidance and local NHS policy before clinical use. Newly added V19 material has not received independent clinical sign-off.
NF1 is an autosomal-dominant tumour-predisposition disorder; about half of cases arise de novo.
Recognise
- Multiple café-au-lait macules, intertriginous freckling, neurofibromas and iris Lisch nodules; age affects which features appear.
- Children may have learning difficulties, optic pathway glioma, skeletal dysplasia or hypertension.
Follow-up
- Make a clinical/genetic diagnosis with specialist input; distinguish NF1 from Legius syndrome and other causes of pigmentation.
- Arrange age-appropriate multidisciplinary surveillance, blood pressure checks and symptom-directed eye or neurological evaluation.
- Urgently assess rapidly enlarging painful neurofibromas or new neurological deficits; malignancy must be considered.
UK sources / further reading: NHS Genomic Test Directory
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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