• Thibault Mahévas, Bertrand Arnulf, Jean-David Bouaziz, Livideanu Cristina Bulai CB Département de Dermatologie, Université Paul Sabatier, Toulouse, France., Amélie Osio, Amandine Servy, Bernard Cribier, Bruno Sassolas, Marie Jachiet, Laurence Michel, Pierre Aucouturier, Dan Lipsker, Camille Frances, Emilie Sbidian, Michel Rybojad, Vincent Descamps, Michel D'Incan, Philippe Humbert, Marie Beylot-Barry, Thierry Passeron, Claire de Moreuil, Ruba Y Taha, Olivier Hermine, Alain Dupuy, Sébastien Barbarot, Sébastien Debarbieux, Olivier Carpentier, Fanny Brault, Jean-Luc Schmutz, Domitille Thomas-Beaulieu, Philippe Modiano, Charles Zarnitsky, François Lifermann, Emilie Baubion, Nicolas Limal, Fabien Le Bras, Marie Le Moigne, Marie Tauber, Alexis Talbot, Romain Prud'homme, Sandy Peltier, Adèle De Masson, Maxime Battistella, Martine Bagot, Arsène Mékinian, and Olivier Fain.
• Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint Antoine, Service de Médecine Interne, Paris, France.
• Blood. 2020 Apr 2; 135 (14): 1101-1110.

AbstractScleromyxedema is a rare skin and systemic mucinosis that is usually associated with monoclonal gammopathy (MG). In this French multicenter retrospective study of 33 patients, we investigated the clinical and therapeutic features of MG-associated scleromyxedema. Skin molecular signatures were analyzed using a transcriptomic approach. Skin symptoms included papular eruptions (100%), sclerodermoid features (91%), and leonine facies (39%). MG involved an immunoglobulin G isotype in all patients, with a predominant λ light chain (73%). Associated hematologic malignancies were diagnosed in 4 of 33 patients (12%) (smoldering myeloma, n = 2; chronic lymphoid leukemia, n = 1; and refractory cytopenia with multilineage dysplasia, n = 1). Carpal tunnel syndrome (33%), arthralgia (25%), and dermato-neuro syndrome (DNS) (18%) were the most common systemic complications. One patient with mucinous cardiopathy died of acute heart failure. High-dose IV immunoglobulin (HDIVig), alone or in combination with steroids, appeared to be quite effective in nonsevere cases (clinical complete response achieved in 13/31 patients). Plasma cell-directed therapies using lenalidomide and/or bortezomib with dexamethasone and HDIVig led to a significant improvement in severe cases (HDIVig refractory or cases with central nervous system or cardiac involvement). The emergency treatment of DNS with combined plasmapheresis, HDIVig, and high-dose corticosteroids induced the complete remission of neurological symptoms in 4 of 5 patients. Quantitative reverse-transcriptase polymerase chain reaction analysis of 6 scleromyxedema skin samples showed significantly higher profibrotic pathway levels (transforming growth factor β and collagen-1) than in healthy skin. Prospective studies targeting plasma cell clones and/or fibrotic pathways are warranted for long-term scleromyxedema management.© 2020 by The American Society of Hematology.

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