Mei-Jan Chen, Peng Li, Kevin P. Boyd, Amy Theos, David T. Redden and Bruce Korf

OrphanetpJournal of Rare Diseases 2018 13:31

Abstract Published on 7 February 2018

Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen and Sirkku Peltonen

Orphanet Journal of Rare Diseases 2018 13:5

Abstract published on January 15, 2018 

Neurofibromatosis Type 1 (NF1) is a disease characterized by the development of cutaneous tumours along nerve pathways. Cutaneous tumours are benign tumours, but have the potential to become malignant over time. To date, there has been no in vitro model making it possible to study the appearance and formation of cutaneous neurofibromas. Moreover, the genetic and pathological mechanisms of the disease and the appearance of cutaneous manifestations in NF are also widely unknown. No specific treatment is available for patients. Only the numerous complications may be treated or controlled. The general objective of the research project is to create an in vitro model, through tissue engineering, of the morphogenesis process of cutaneous neurofibromas. The development of a human skin model reconstructed in a laboratory could represent a renewable source of human tissue. This project would therefore have a considerable impact on the understanding of pathogenic mechanisms leading to the formation of cutaneous neurofibromas and, ultimately, on the identification of therapeutic agents capable of slowing or even preventing the development of cutaneous neurofibromas.