Purpose or Case Report: The phakomatoses, or neurocutaneous syndromes, are the classically described congenital disorders with involvement of structures derived from the ectoderm. While the cutaneous manifestations of these conditions often establish their diagnosis, imaging characteristics can indicate the extent of disease and signify prognosis and potential complications related to the disorders.
This educational poster reviews key multimodality imaging features and examples of infrequently encountered phakomatoses, including Sturge-Weber, von-Hippel Lindau disease, hereditary hemorrhagic telangiectasia, neurocutaneous melanosis, PHACES syndrome, basal cell nevus, and Parry-Romberg in pediatric patients. This case-based review of these syndromes will focus on relevant imaging findings with self-testing. After this electronic exhibit, residents will be able to describe the common imaging features of the less common phakomatoses.
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