Hemifacial myohyperplasia
Hemifacial myohyperplasia (HFMH) es un maladia rar characterisate per muscular hypertrophia, mitochondrial dysfunctionamento e hypoglycemia. Es causate per un mutation del gene PIK3CA, un gene etiam implicate in syndrome CLOVES (fr).
Un tractamento con alpelisib (en), un inhibitor del gene PIK3CA utilisate in CLOVES syndrome, permitte de recuperar un symetrisation progressive del facie.[1][2]
Referentias
[modificar fonte]- ↑ https://www.aphp.fr/contenu/myohyperplasie-hemifaciale-une-etude-permet-de-decrire-le-mecanisme-de-cette-malformation
- ↑ Charles Bayard, Eleonora Segna, Maxime Taverne, Antoine Fraissenon, Quentin Hennocq, Baptiste Periou, Lola Zerbib, Sophia Ladraa, Célia Chapelle, Clément Hoguin, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christine Broissand, Ivan Nemazanyy, Gwennhael Autret, Nicolas Goudin, Christophe Legendre, François-Jérôme Authier, Thomas Viel, Bertrand Tavitian, Cyril Gitiaux, Sylvie Fraitag, Jean-Paul Duong, Clarisse Delcros, Bernard Sergent, Arnaud Picard, Michael Dussiot, Laurent Guibaud, Roman Khonsari & Guillaume Canaud (2023-09-15). "Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition" (in en). Journal of experilental medecine 220 (11): e20230926. doi:.