Carried by: FIMARAD
References:
Clinician(s): Smail HADJ-RABIA, Fanny MORICE-PICARD
Biologist(s): Fabienne CHARBIT-HENRION, Isabelle CREVEAUX, Bruno FRANCOU, Natalie JONES, Paul KUENTZ, Eulalie LASSEAUX, Louis LEBRETON, Victor MARIN, Vincent MICHAUD, Laurence PACOT, Béatrice PARFAIT, Julie STEFFANN, Dominique VIDAUD
Presentation
Genetic diseases affecting the skin and mucous membranes.
- Visible impact (social consequences), functional impairment (grasping, walking)
- Chronic and progressive conditions, associated comorbidities and cancers
Criteria before considering a discussion in MDM-FMG
- Patient seen during a consultation at one of the FIMARAD network’s reference or specialized centers
or discussed at the network’s multidisciplinary clinical meeting dedicated to genodermatoses or neurofibromatosis
- Clinical presentation
- Clear phenotype with negative targeted tests
- Or unusual phenotype
- Patient (and parents) available for a new blood sample
Complete the RCP form using one of the following links:
- https://rcp.skemeet.io/fimarad-rcp-genodermatoses/nouveau-patient
- https://rcp.skemeet.io/fimarad-rcp-neurofibromatoses-type1/nouveau-patient
The referring clinician must be present.
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM Genodermatosis
National
Paris, Bordeaux, Toulouse, Nice
Paris :
Christine BODEMER, Smail HADJ-RABIA
Bordeaux :
Fanny MORICE-PICARD
fanny.morice-picard@chu-bordeaux.fr
Toulouse :
Juliette MAZEREEUW-HAUTIER
mazereeuw-hautier.j@chu-toulouse.fr
Nice :
Christine CHIAVERINI
MDM Neurofibromatosis
National
Paris, Lyon
Paris :
Arnaud JANNIC
Lyon :
Dr Patrick COMBEMALE