#ISSVA is pleased to announce that the ISSVA World Congress 2022 (formerly the Workshop) will be held in a hybrid in-person / virtual format. Save the Dates! 10-13 May 2022 in Vancouver, Canada; learn more at: https://t.co/pF94K6P2XK #VascularAnomalies
@SerenaNikZainal Interestingly, CMMRD patient shown here not only has café-au-lait patches but also blue macules (dermal melanocytosis).
https://t.co/FlenOzCX5i
CLOVES Syndrome Community and @_allstripes are partnering to create a database that will enable multiple new PIK3CA-related overgrowth spectrum (PROS) research projects! 🔬🧬
For more information and to participate visit https://t.co/IrV9H8VnNi
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials https://t.co/TF8wgFipyq
@maladierareinfo Le centre constitutif MAGEC-Mosaïques de Dijon (filière FIMARAD) prend spécifiquement en charge les patients atteints de naevus sébacé et de syndrome de Schimmelpenning.
Il mène des travaux de recherche sur ces affections dans l'équipe @GAD_Mosaic
#DocTocToc 6 ans. Tache hyperpigmentée présente depuis la naissance, unilatérale sur plusieurs dermatomes, bord bien limité , grandit avec l'enfant. Jamais montré à un dermatologue.
Mosaïsme pigmentaire?
"Compassionate use of everolimus for refractory epilepsy in a patient with MTOR #mosaic mutation"
Despite good rationale, #everolimus (used in #TSC) was not efficient in controlling severe seizures in a patient with hypomelanosis of Ito.
@ELS_Genetics
https://t.co/9sUCtGIEF9