Research summary: Cutaneous findings in neurofibromatosis type 1

We recently published an open-access practical overview describing in detail the most typical cutaneous findings of neurofibromatosis type 1 (NF1).

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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.

Our new paper described 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. Enjoy reading!

vincenzo piccolo

– Dr Vincenzo Piccolo

 

Full paper:

Ozarslan B, Russo T, Argenziano G, Santoro C, Piccolo V. Cutaneous Findings in Neurofibromatosis Type 1. Cancers (Basel). 2021 Jan 26;13(3):463.

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