Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients
Journal article published in 2023 by
Francesco Pegoraro 
,
Martina Mazzariol,
Irene Trambusti ,
Sameer Bakhshi,
Saumyaranjan Mallick ,
Ira J. Dunkel ,
Cor van den Bos,
Özlem Tezol,
Shijun Shan,
Suheyla Ocak ,
Flavio Giordano ,
Carmela De Fusco,
Stefania Gaspari,
Anna Maria Buccoliero,
Maria Luisa Coniglio
and other authors.
,
Martina Mazzariol,
Irene Trambusti ,
Sameer Bakhshi,
Saumyaranjan Mallick ,
Ira J. Dunkel ,
Cor van den Bos,
Özlem Tezol,
Shijun Shan,
Suheyla Ocak ,
Flavio Giordano ,
Carmela De Fusco,
Stefania Gaspari,
Anna Maria Buccoliero,
Maria Luisa Coniglio
and other authors.
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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.