Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients
Francesco Pegoraro, Martina Mazzariol, Irene Trambusti, Sameer Bakhshi, Saumyaranjan Mallick, Ira J. Dunkel, Cor van den Bos, Özlem Tezol, Shijun Shan, Süheyla Ocak, Flavio Giordano, Carmela Fusco, Stefania Gaspari, Anna Maria Buccoliero, Maria Luisa Coniglio, Elisa Buti, Paola Romagnani, Jennifer Picarsic, Jean Donadieu, Eli L. Diamond, Jean‐François Emile, Elena Sieni, Julien Haroche, Augusto Vaglio
Abstract
Erdheim-Chester disease (ECD) is a rare histiocytic disorder that can present as a localized infiltration of foamy histiocytes or a multisystem disease that may be life-threatening. It is extremely rare in children. Pegoraro and colleagues present the clinical and molecular features of 21 patients with pediatric ECD through a large international collaboration, documenting that it resembles its adult counterpart, with similar molecular features and responses to agents targeting BRAF and MEK.