First author: Angèle Soria
Link to article: https://pubmed.ncbi.nlm.nih.gov/36426626/
We have identified a previously unclassified entity among systemic autoinflammatory diseases, which we named the SITRAME syndrome, short for "Systemic Inflammatory Trunk Recurrent Acute Macular Eruption." We report 16 adult patients who presented with recurrent, non-pruritic macular eruptions on the trunk and systemic inflammation. The median age at diagnosis was 55 years, affecting both men and women equally. All patients had elevated C-reactive protein (CRP), and 56% experienced fever during flare-ups. The disease typically began around age 35. During recurrences, the skin lesions were consistent in each patient, with a median duration of 3 days. Seven out of 16 patients reported more than 20 episodes over several decades, without worsening symptoms over time. Skin biopsies performed during flare-ups in 8 patients were uninformative, showing nonspecific results. No biological abnormalities were noted, except for elevated CRP during flare-ups. Genetic exploration using next-generation sequencing in 10 of the 16 patients did not identify any specific mutations in known autoinflammatory disease genes as of 2022. Continuous colchicine treatment was effective in 6 patients, reducing the number and duration of flare-ups.
Following this publication, we aim to gather patients internationally and attempt to determine the cause and treatment of this syndrome. You can contact us for advice at angele.soria@aphp.fr or sophie.georgin-lavialle@aphp.fr, or make an appointment through our website via our secretariat. Dedicated appointment slots are available for this syndrome.
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