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[7 min watch] Cutaneous findings in neurofibromatosis type 1
In this short video, Dr Vincenzo Piccolo discusses his recent research into the most typical cutaneous findings of neurofibromatosis type 1 (NF1), with real patient examples.
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NF1 is a rare and complex disease, transmitted in autosomal dominant fashion, secondary to germline mutations in the NF1 tumor suppressor gene. NF1 is included in the large group of RASopathies, namely rare genetic syndromes provoked by mutations in the Ras/mitogen-activated protein kinase pathway. NF1 usually presents with predominant dermatologic findings, whose early and prompt recognition could play a key role in the diagnosis.
In the video, Dr Piccolo looks at the findings of his recent research paper with colleagues describing the most typical cutaneous findings of NF1 (also included in diagnostic criteria), such as café-au-lait macules, freckling, and neurofibromas, and the less known manifestations with particular focus on juvenile xanthogranuloma, nevus anemicus and other cutaneous findings.
The video features real patient cases and clinical presentations.
Watch the full video below:
Watch another video like this one: Dermoscopy of juvenile xanthogranuloma in children