Multiple drug regimen-refractory rosai–dorfman–destombes disease mimicking relapsing polychondritis successfully treated with cobimetinib
Author
López-Aldabe, Kima
Escrihuela-Vidal, Francesc
Tuells, Manel
Llobera-Ris, Clàudia
Bauer Alonso, Andrea
CORTES-ROMERA, MONTSERRAT
Gràcia-Sànchez, Laura
Tormo-Ratera, Marian
Juanola Roura, Xavier
Penin-Mosquera, Rosa Maria
Corbella Virós, Xavier
Solanich, Xavier
Publication date
2022ISSN
2284-2594
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 bilateral painless cervical lymphadenopathy associated with systemic symptoms such as fever and weight loss. Extranodal disease is also frequent and can involve any organ, mostly skin, nasal cavity, bone, and retro-orbital tissue. Swelling of cartilaginous tissues such as ear helix 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 success rates. In this respect, since somatic variants in genes involved in the mitogen-activated protein kinase (MAPK) pathway have been observed to play a pathogenic role in RDD, the use of therapies targeting these pathogenic variants seems to be a reasonable strategy. Here we present a case of RDD with extensive extranodal involvement that showed a rapid and complete response to the MEK inhibitor cobimetinib.
Document Type
Article
Document version
Published version
Language
English
Subject (CDU)
61 - Medical sciences
Keywords
Malaltia de Rosai-Dorfman-Destombes
Malaltia de Rosai-Dorfman
Policondritis recurrent
Enfermedad de Rosai-Dorfman-Destombes
Enfermedad de Rosai-Dorfman
Policondritis recurrente
Rosai-Dorfman-Destombes disease
Rosai-Dorfman disease
Recurrent polychondritis
Pages
5
Publisher
European Federation of Internal Medicine
Collection
9; 2
Is part of
European Journal of Case Reports in Internal Medicine
Citation
López-Aldabe, Kima; Escrihuela-Vidal, Francesc; Tuells, Manel [et al.]. Multiple drug regimen-refractory rosai–dorfman–destombes disease mimicking relapsing polychondritis successfully treated with cobimetinib. European Journal of Case Reports in Internal Medicine, 2022, 9(2), [p. 1-5]. Disponible en: <https://www.ejcrim.com/index.php/EJCRIM/article/view/3076>. Fecha de acceso: 7 oct. 2022. DOI: 10.12890/2022_003076
Link to the related item
This item appears in the following Collection(s)
- Ciències de la Salut [740]
Rights
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Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by-nc-nd/4.0/