470 Investigating modifiers of cutaneous neurofibroma development in adults with neurofibromatosis type 1

E Patel,J Ramos,X Hu,J Roberts,F Mccormick,J Blakeley,C Romo,K.Y Sarin

doi:10.1016/j.jid.2022.05.479

470 Investigating modifiers of cutaneous neurofibroma development in adults with neurofibromatosis type 1

E Patel, J Ramos + Show 6 more

Open Access

https://doi.org/10.1016/j.jid.2022.05.479

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Journal: The Journal of investigative dermatology	Publication Date: Jul 20, 2022
License type: publisher-specific-oa

Affiliation: Stanford University, Johns Hopkins Medicine, Johns Hopkins University, University of California, San Francisco

#Neurofibromatosis Type 1 #Cutaneous Neurofibroma + Show 8 more

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Abstract

Neurofibromatosis type 1 (NF1) is a multi-system genetic disorder involving the cutaneous, nervous, hematopoietic, ocular, and skeletal systems. Almost all individuals with NF1 (>95%) develop benign dermal tumors called cutaneous neurofibromas (cNFs) which frequently lead to significant physical and social morbidity. cNFs exhibit high variability in number, subtype, growth rate, and anatomic location. Despite substantial research into the molecular drivers of cNFs, the genotypic-phenotypic correlation and the factors which modulate cNF development are not well understood.

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