What is MAGEC-Mosaiques ?
The MAGEC multi-site reference centre is a part of FIMARAD (the rare skin diseases network). It covers a coordinating site and five component sites, including the Dijon site which is specifically dedicated to mosaic genetic conditions. Certified on 1st June 2017, it is headed by Professor Pierre Vabres (dermatology department, Dijon-Bourgogne University Hospital) and coordinated by Dr. Virginie Carmignac.
What is a mosaic condition ?
The word mosaic (or mosaicism) is used to refer to certain cells that have a different genetic heritage from the cells in the rest of the body, due to embryonic mutations occurring very early on during pregnancy. This is in fact a definite feature in all humans but it manifests at times in certain characteristic skin conditions, particularly those relating to the vascular system, pigmentation, keratinocytes or adipocytes, and are often associated with tissue growth disorders (hypertrophy), neurological disorders, or various other developmental disorders. Though genetic in origin, these conditions are generally not hereditary, as the mutation is not passed on by parents.
What are these mosaic-activating disorders ?
They are mainly vascular malformations : port wine stains, cutaneous venous angiomas, lymphangiomas. Some of these occur in combination with limb hypertrophy, macrocephaly and, occasionally, neurological disorders in the form of Klippel-Trenaunay syndrome, CLOVES syndrome or MCAP syndrome (PIK3CA-Related Overgrowth Spectrum), or Sturge-Weber syndrome which also encompasses other manifestations. Mosaicism is also the cause of certain skin pigmentation disorders : giant congenital melanocytic nevus, hypomelanosis of Ito, phacomatosis pigmentovascularis, and epidermal nevi or nevus sebaceous, which are also sometimes associated with neurological disorders. Lastly, new, formerly undiagnosed mosaic-activating disorders are now being listed and characterised in the genetic plan with the help of new sequencing techniques.
The objectives of the MAGEC-Mosaique centre :
The centre carries out diagnosis and multidisciplinary treatment of these orphan diseases, by giving specialised consultations, providing genetic testing in collaboration with the UF6254 (Prof. Philippe) innovation laboratory, and organising multidisciplinary team meetings at the local and national level. It provides specific treatment resources : skin lasers, interventional radiology, and promotes advancements in personalised drug therapies for these disorders by developing clinical trials, particularly in the case of CLOVES syndrome. Its research efforts hinge on its healthcare objectives, primarily through genetic characterisation of new mosaic-activating disorders and the development of ground-breaking treatments.
Who to contact ?
To arrange consultation appointments relating to specialised dermatology for rare diseases and to take part in clinical trials : The administrative office, Department of Dermatology, Dijon-Bourgogne University Hospital, by telephone on +33 3 80 29 33 36
To request a genetic diagnosis for a mosaic condition : Molecular genetics laboratory for “Innovations in rare disease genomic diagnostics” by telephone on +33 3 80 39 66 59