[Erdheim-Chester disease.]

[erdheim-chester disease]

Erdheim-Chester disease is a rare and orphan disease . Despite having been overlooked previously , numerous new cases have been diagnosed more recently . The number of Erdheim-Chester disease cases reported has increased substantially : more than 300 new cases have been published in the past 10 years . This situation is mainly a result of the generally better awareness among pathologists , radiologists , and clinicians of various aspects of this rare disease . The field has been particularly active in the last few years , with evidence of the efficacy of interferon-α , the description of a systemic pro-inflammatory cytokine signature , and most recently , reports of the dramatic efficacy of BRAF inhibition in severe , BRAF (V 600 E ) mutation -associated cases of Erdheim-Chester disease . Also , BRAF mutations have been found in more than half of the patients with Erdheim-Chester disease who were tested . Detailed elucidation of the pathogenesis of the disease is likely to lead to the development of better targeted and more effective therapies .