Neurocutaneous syndromes: Imaging of systemic manifestations

Neurocutaneous syndromes are a diverse group of inherited disorders with variable penetrance affecting structures developing from neuroectoderm. They are not appropriately evaluated, and these disorders are lifelong conditions that can cause tumours to grow in the skin, viscera and central nervous system. More than 30 entities are included in this group. Our pictorial review describes imaging of systemic features of common neurocutaneous syndromes such as neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis, Sturge–Weber syndrome and Von Hippel–Lindau syndrome. The imaging modalities of choice are magnetic resonance imaging and computed tomography (CT). Although advances in molecular imaging can determine genetic abnormality, a radiological examination is required for early identification of lesions, monitoring disease progression and further management. Our review aims to familiarise our readers with common neurocutaneous syndromes and imaging of their systemic manifestations.