Oral communication, iL42

Official XXIst International Pigment Cell Conference website - 21-24 Sept 2011, Bordeaux - France | updated: September 04 2011

Genomics and the molecular etiologies of congenital nevus formation

SPEAKER H. Etchevers #whois submiter ?
AUTHOR(s) H. Etchevers

Both isolated and syndromic forms of congenital melanocytic nevi involve anomalies in the development, growth or differentiation of derivatives of the neural crest cell population. The primary, but not exclusive, cell type involved in this group of pathologies is the melanocyte. The time course of, and molecules involved in, its normal development within cutaneous and extracutaneous sites are incompletely understood. Recent technological advances in genomic analyses have enabled the elucidation of the molecular bases of a number of extremely rare and sporadic malformations that would have remained inaccessible for the tools of traditional molecular genetics. The large or giant congenital melanocytic nevus is such a rare condition. It can occur as an isolated hamartomous overgrowth of the melanocyte population or in association with melanocytosis of the central nervous system by way of the meninges, proliferative nodules and tumors and/or segmental disorganization of the overlying epidermal annexes, or underlying dermal, hypodermal and muscular layers. These clinical signs can orient hypotheses as to molecular etiologies. This presentation will broach the techniques used to test certain hypotheses currently under investigation using cohorts drawn from French and American patient populations, as well as the use of innovative animal models to address the result of perturbing specific cell signaling pathways during embryonic and fetal cutaneous development.



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Université de Bordeaux 2 & Conseil Régional Aquitaine