Efficacy of canakinumab for mosaic tumor necrosis factor receptor associated periodic syndrome TRAPS)

Alexandre Terréa,1, Mathieu Vautierb,1, Jean-Emmanuel Kahnc,

Sophie Georgin-Laviallea,2,*, Guilaine Boursierd,2

Introduction:

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is one of the first monogenic autoinflammatory diseases to be described [1]. TRAPS is a dominant disease due to mutations in the TNFRSF1A gene and affects patients from all regions of the world [2].

The main clinical features are prolonged recurrent inflammatory flares associated with fever, abdominal pain, myalgia and oedema. Most patients have a germline mutation, but 4 patients with somatic (i.e.post-zygotic) mutations have been described [3–6]. Canakinumab, a monoclonal anti-interleukin-1 antibody, has been reported to be effective in preventing attacks and controlling inflammation in germinal TRAPS. Indeed, canakinumab is the only molecule that has shown efficacy in a randomized trial [7]. One case associated with somatic mutation reported efficacy of canakinumab for somatic TRAPS [4]. Here we report the efficacy of canakinumab for the treatment of 2 patients followed in the French referral center for adult auto-inflammatory disease (CEREMAIA).

https://doi.org/10.1016/j.ejim.2024.01.034

Received 11 December 2023; Received in revised form 22 January 2024; Accepted 25 January 2024

0953-6205/© 2024 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

Systemic inflammatory trunk recurrent acute macular eruption (SITRAME): A new auto-inflammatory syndrome in adult?

Premier auteur : Angèle Soria

Revue: JEADV

Lien vers L’article: https://doi.org/10.1111/jdv.18771

Summary:

Undifferentiated systemic autoinflammatory disorders (SAIDs) are diseases related to innate immunity that do not correspond to any known autoinflammatory disease and lack a confirmed molecular diagnosis.

These syndromes are characterized by recurrent, generalized inflammation in the absence of infection or autoimmune disease, with most patients presenting skin manifestations as the primary clinical feature.

We report here a series of 16 adult patients (Table 1), equally distributed between males and females (50%), who exhibited recurrent, non-pruritic, stereotyped macular eruptions, sometimes papular, consistently affecting the trunk. Certain areas of the skin were spared, with sharp demarcation. These cutaneous manifestations were associated with systemic inflammation in 100% of cases.

The median age at diagnosis was 53 years (range: 28–68). All cases were sporadic and involved adults from diverse backgrounds. The first disease episodes occurred at a mean age of 35 years (range: 18–52), with no cases reported during childhood.

In conclusion, we describe a new clinical entity characterized by systemic inflammation and a recurrent, stereotyped macular eruption of the trunk, always occurring with the same topography. This clinical presentation meets the criteria for an undetermined SAID, and we propose the acronym SITRAME (Systemic Inflammatory Trunk Recurrent Acute Macular Eruption). Further studies are needed to determine its etiology and pathophysiology to optimize therapeutic management.

Systemic inflammatory trunk recurrent acute macular eruption SITRAME.

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