Multiple Drug Regimen-Refractory Rosai–Dorfman–Destombes Disease Mimicking Relapsing Polychondritis Successfully Treated with Cobimetinib

  • Kima López-Aldabe Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
  • Francesc Escrihuela-Vidal Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
  • Manel Tuells-Morales Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
  • Clàudia Llobera-Ris Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Dermatology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Andrea Bauer-Alonso Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Dermatology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Montserrat Cortes-Romera Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Nuclear Medicine – PET/CT (IDI), Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Laura Gràcia-Sànchez Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Nuclear Medicine – PET/CT (IDI), Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Marian Tormo-Ratera Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Rheumatology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Xavier Juanola Roura Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Rheumatology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Rosa Maria Penin-Mosquera Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Pathology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Xavier Corbella Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; School of Medicine, Universitat Internacional de Catalunya, Barcelona, Spain
  • Xavier Solanich Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain

Keywords

Rosai–Dorfman–Destombes disease, Rosai–Dorfman disease, relapsing polychondritis, MAPK/ERK pathway, cobimetinib

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

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  • Published: 2022-02-04

    Issue: 2022: Vol 9 No 2 (view)

    Section: Articles

    How to cite:
    1.
    López-Aldabe K, Escrihuela-Vidal F, Tuells-Morales M, Llobera-Ris C, Bauer-Alonso A, Cortes-Romera M, Gràcia-Sànchez L, Tormo-Ratera M, Juanola Roura X, Penin-Mosquera RM, Corbella X, Solanich X. Multiple Drug Regimen-Refractory Rosai–Dorfman–Destombes Disease Mimicking Relapsing Polychondritis Successfully Treated with Cobimetinib . EJCRIM 2022;9 doi:10.12890/2022_003076.