Lupus-like Skin Disease in MDS/CMML Linked to Clonal Inflammation: Study
KEY TAKEAWAYS
A new study looks at how lupus-like symptoms in myelodysplastic syndromes (MDS) or chronic myelomonocytic leukemia (CMML) differ clinically and pathologically from idiopathic lupus.
Clone-directed treatments showed better outcomes than standard LE therapies.
Lupus-like manifestations in patients with myelodysplastic syndromes (MDS) or chronic myelomonocytic leukemia (CMML) appear to represent a distinct clinical entity driven by clonal hematopoiesis rather than classic autoimmunity, according to a new case-control study in JAMA Dermatology.
The retrospective, multicenter study evaluated 24 patients diagnosed with systemic or cutaneous lupus erythematosus (LE) in the setting of MDS or CMML. Compared to patients with idiopathic LE, patients with MDS/CMML-associated LE were older (median age, 65 vs 23 years; P < 0.001), more frequently male (53% vs 8%; P = 0.008), and had less renal and articular involvement. Positivity for anti–double-stranded DNA antibodies was also significantly reduced (32% vs 76%; P = 0.001).
The analysis results showed cutaneous involvement was common, occurring in 71% of patients, with chilblain lupus being the predominant subtype. Histopathologic re-evaluation reclassified 50% of biopsies as MDS/CMML cutis. Next-generation sequencing showed identical myeloid variants in blood and skin samples in 6 of 8 patients.
Standard LE therapies, such as corticosteroids or antimalarials, were often ineffective, while clone-directed therapies were associated with concurrent hematologic and dermatologic responses in 5 of 7 treated patients.
"In this study, MDS/CMML–associated lupus-like manifestations were a distinct entity mimicking systemic LE or cutaneous LE and characterized by clonal inflammation rather than classic autoimmunity in most cases," the authors wrote. "Early recognition is important, as treatment may require clone-targeting therapies rather than conventional LE therapy."
Chauffier J, et al. JAMA Dermatology. Source: Doi:10.1001/jamadermatol.2025.4586