López-Aldabe, Kima and Escrihuela-Vidal, Francesc and Tuells-Morales, Manel and Llobera-Ris, Clàudia and Bauer-Alonso, Andrea (2022) Multiple Drug Regimen-Refractory Rosai–Dorfman–Destombes Disease Mimicking Relapsing Polychondritis Successfully Treated with Cobimetinib. European Journal of Case Reports in Internal Medicine, 9 (2). pp. 1-5. ISSN 2284-2594
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Abstract
Rosai–Dorfman–Destombes disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare non-Langerhans cell histiocytosis of unknown cause. The disease often manifests as painless bilateral cervical lymphadenopathy associated with systemic symptoms such as fever and weight loss. Extranodal disease is also frequent and can involve any organ, mostly the skin, nasal cavity, bone, and retro-orbital tissue. Swelling of cartilaginous tissues, such as the helix of the ear or laryngeal structures, may mimic the entity known as relapsing polychondritis. Although spontaneous remission is the most expected evolution, some cases require systemic treatment with prednisone, methotrexate or cytotoxic agents, with variable rates of success. In this respect, since somatic variants in the genes involved in the mitogen-activated protein kinase (MAPK) and extracellular signal-regulated kinases (ERK) pathway have been observed to play a pathogenic role in RDD. Therefore, the use of therapies targeting these pathogenic variants appears to be a reasonable strategy. Here we present the case of a 37-year-old woman with RDD and extensive extranodal involvement that showed a rapid and complete response to the MEK inhibitor cobimetinib.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Rosai–Dorfman–Destombes disease, Rosai–Dorfman disease, relapsing polychondritis, MAPK/ERK pathway, cobimetinib |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 14 Apr 2022 12:39 |
| Last Modified: | 14 Apr 2022 12:39 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21805 |
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