Comprendre comment les mélanocytes contribuent à l’équilibre de la peau, pourquoi leur fonctionnement se dérègle dans certaines maladies et comment restaurer leurs fonctions : c’est le fil conducteur des recherches de Jennifer Allouche, chargée de recherche Inserm au sein de l’Institut des cellul...

Epidermolysis bullosa (EB) is a heterogeneous group of rare genodermatoses marked by skin fragility and bullae formation induced by minor trauma. Pathologic variants in at least 21 genes are associated with EB, grouped into four major subtypes based predominantly on the plane of cleavage within the skin. EB simplex is characterized by epidermal bullae formation and is due to gene mutations that affect epidermal proteins, most commonly keratin filaments. Junctional EB is due to gene mutations...

No dia 16 de agosto, o Rosewood São Paulo será cenário de um encontro onde luxo e solidariedade caminham juntos: a quinta edição do Baile do BB. Criado por Beto Pacheco e Tiago Moura, o evento apoia a Casa Santa Teresinha, instituição que oferece acolhimento e cuidado integral a crianças e adolescentes com genodermatoses — […] O post Baile do BB homenageia Grace Kelly em edição no Rosewood São Paulo apareceu primeiro em Harper's Bazaar » Moda, beleza e estilo de vida em um só site.

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A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project

Molecular insights into genodermatoses: Genetic findings from 43 patients