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Foundation Sciences · Genetics
Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with high penetrance and variable expression, caused by mutations in the NF1 gene (chromosome 17).
📌 Learning Objectives
- Describe the underlying mechanism of Neurofibromatosis Type 1.
- Identify the key clinical features and complications of Neurofibromatosis Type 1.
- Outline the appropriate investigations and management of Neurofibromatosis Type 1.
- Discuss the implications for patients and families of Neurofibromatosis Type 1.
📋 Overview
Diagnostic criteria include café-au-lait macules (≥6), axillary/inguinal freckling, neurofibromas, Lisch nodules, optic gliomas, sphenoid dysplasia and a first-degree relative with NF1.
🔬 Basic Science
Diagnostic criteria include café-au-lait macules (≥6), axillary/inguinal freckling, neurofibromas, Lisch nodules, optic gliomas, sphenoid dysplasia and a first-degree relative with NF1.
🏥 Clinical Relevance
Annual review with skin, eye, BP, growth and developmental assessment is recommended.
🧪 Investigations
Investigation depends on clinical context: relevant blood tests, imaging, and specific genetic or histopathological tests as appropriate. Refer to specialist services where indicated.
💊 Management
Management is condition-specific and typically multidisciplinary, combining medical therapy, surgical intervention where appropriate, supportive care, and family/genetic counselling.
Revision Resources – expand the sections below for high-yield notes, exam pearls, key facts and further reading.
MLA High-Yield Notes & Quick Revision ⌄
Common SBA themes: recognising the underlying mechanism, identifying classic clinical features, and choosing the first-line investigation or management step. Watch for inheritance pattern and characteristic associations.
nf1
neurofibromatosis
cafe au lait
lisch nodule
optic glioma
- NF1 is autosomal dominant due to mutations in the NF1 gene on chromosome 17.
- Diagnostic features: café-au-lait macules, axillary/inguinal freckling, neurofibromas, Lisch nodules.
- Optic glioma is the commonest CNS tumour in NF1.
- Phaeochromocytoma should be considered in NF1 patients with hypertension.
- 50% of cases are due to new mutations.
Exam Pearls ⌄
⭐ High Yield
NF1 is autosomal dominant due to mutations in the NF1 gene on chromosome 17.
Diagnostic features: café-au-lait macules, axillary/inguinal freckling, neurofibromas, Lisch nodules.
Optic glioma is the commonest CNS tumour in NF1.
Phaeochromocytoma should be considered in NF1 patients with hypertension.
50% of cases are due to new mutations.
💡 Clinical Pearl
Nf1: Annual review with skin, eye, BP, growth and developmental assessment is recommended.
⚠️ Exam Tip — Common Mistakes
Confusing the mechanism of Neurofibromatosis Type 1 with related conditions.
Missing classic clinical features of Neurofibromatosis Type 1 in SBA stems.
Failing to consider Neurofibromatosis Type 1 in the differential diagnosis.
Key Facts ⌄
NF1 is autosomal dominant due to mutations in the NF1 gene on chromosome 17.
Diagnostic features: café-au-lait macules, axillary/inguinal freckling, neurofibromas, Lisch nodules.
Optic glioma is the commonest CNS tumour in NF1.
Phaeochromocytoma should be considered in NF1 patients with hypertension.
50% of cases are due to new mutations.
Related Topics ⌄
References ⌄
- GMC MLA Content Map
- NICE Clinical Knowledge Summaries
- BMJ Best Practice
Further Resources
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