Objective: Neurocutaneous syndromes are a heterogeneous group of multisystemic disorders. We review the multimodality imaging findings in the disorders with a propensity for intraabdominal disease. We highlight more recently recognized disease patterns and discuss imaging surveillance optimization.
Conclusion: Knowledge of varied intraabdominal phenotypic expressions can increase diagnostic rates. Limitation of radiation dose must be considered in screening this tumor-prone population. Early detection of neoplastic findings is critical for morbidity and mortality reduction.
Keywords: Birt-Hogg-Dubé syndrome; Cowden syndrome; neurocutaneous syndromes; neurofibromatosis type 1; phakomatoses; tuberous sclerosis complex; von Hippel–Lindau syndrome.