Multiple drug regimen-refractory rosai–dorfman–destombes disease mimicking relapsing polychondritis successfully treated with cobimetinib
Autor/a
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
Fecha de publicación
2022ISSN
2284-2594
Resumen
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.
Tipo de documento
Artículo
Versión del documento
Versión publicada
Lengua
English
Materias (CDU)
61 - Medicina
Palabras clave
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
Páginas
5
Publicado por
European Federation of Internal Medicine
Colección
9; 2
Publicado en
European Journal of Case Reports in Internal Medicine
Citación
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
Enlace al documento relacionado
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