Rare inside rare

Rare inside rare

Rare inside rare: rare aspects of rare and complex connective tissue and musculoskeletal diseases is a supplement developed by ERN ReCONNET and devoted to the rarest forms of the diseases covered by the network, published in 2022 on Clinical Experimental Rheumatology.
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The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET
Rosaria Talarico, Silvia Aguilera, Tobias Alexander, Zahir Amoura, Jeanette Andersen, Laurent Arnaud, Tadej Avcin, Sara Marsal Barril, Lorenzo Beretta, Stefano Bombardieri, Alessandra Bortoluzzi, Coralie Bouillot, Inita Bulina, Gerd R. Burmester, Sara Cannizzo, Lorenzo Cavagna, Benjamin Chaigne, Alain Cornet, Paolo Corti, Nathalie Costedoat-Chalumeau, Zane Dāvidsone, Andrea Doria, Carol Fenech, Alessandro Ferraris, Rebecca Fischer-Betz, João E. Fonseca, Charissa Frank, Andrea Gaglioti, Ilaria Galetti, Vera Guimarães, Eric Hachulla, Monica Holmner, Frederic Houssiau, Luca Iaccarino, Søren Jacobsen, Marteen Limper, Fransiska Malfait, Xavier Mariette, Diana Marinello, Thierry Martin, Lisa Matthews, Marco Matucci-Cerinic, Alain Meyer, ‪Jasminka Milas-Ahić, Pia Moinzadeh, Carlomaurizio Montecucco, Luc Mouthon, Ulf Müller-Ladner, György Nagy, Eunice Patarata, Margarita Pileckyte, Chris Pruunsild, Simona Rednic, Vasco C. Romão, Matthias Schneider, Carlo Alberto Scirè, Vanessa Smith, Alberto Sulli, Farah Tamirou, Chiara Tani, Domenica Taruscio, Anna V. Taulaigo, Angela Tincani, Simone Ticciati, Giuseppe Turchetti, P. Martin van Hagen, Jacob M. van Laar, Ana Vieira, Jeska K. de Vries-Bouwstra, Johannes Zschocke, Maurizio Cutolo and Marta Mosca
[ahead of print, 2022 Mar 29]. Clin Exp Rheumatol. 2022.

In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients.
It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients’ care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.


Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systemic literature review
Johanna Mucke, Alain Cornet, Torsten Witte, Matthias Schneider
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Off-label use of mycophenolate mofetil in the treatment of rare and complex rheumatic connective tissue diseases
Matilde Bandeira, Ana Vieira, Vera Guimarães, Tatiana Bento, Zahir Amoura, Laurent Arnaud, Lorenzo Beretta, Andrea Cere, Gamal Chehab, Eric Hachulla, Jasminka Milas-Ahić, Ulf Müller-Ladner,
György Nagy, Yves Piette, Simona Rednic, Matthias Schneider, Vanessa Smith, Maurizio Cutolo, João Eurico Fonseca, Vasco C. Romão
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Rheumatology residency in a European Reference Network on rare and complex connective tissue and musculoskeletal diseases centre. Opportunities and challenges
Eduardo Dourado, Ana Teresa Melo, Giovanni Pacini, Anne Pankow, Philipp Klemm, Ana Rita Cruz-Machado
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Gender differences in primary antiphospholipid syndrome with vascular manifestations in 433 patients from four European centres
Liala Moschetti, Luisa Dal Pozzolo, Veronique Le Guern, Nathalie Morel, Cécile Marie Yelnik, Marc Lambert, Eric Hachulla, Ygal Benhamou, Cecilia Nalli, Micaela Fredi, Franco Franceschini, Laura Andreoli, Nathalie Costedoat-Chalumeau, Angela Tincani
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports
Marlies Colman, Marco Castori, Lucia Micale, Marco Ritelli, Marina Colombi, Neeti Ghali, Fleur Van Dijk, Luisa Marsili, Adrienne Weeks, Anthony Vandersteen, Andrea Rideout, Anne Legrand, Michael Frank, Tristan Mirault, Alessandro Ferraris, Niccolò Di Giosaffatte, Paola Grammatico, Juergen Grunert, Charissa Frank, Sofie Symoens, Delfien Syx, Fransiska Malfait
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Hoarseness as the presentation of immunoglobulin G4-related disease with vocal cord and mediastinal infiltration
Eduardo Dourado, Ana Silva Martins, João Eurico Fonseca
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Blood biomarkers recommended for diagnosing and monitoring IgG4-related disease. Considerations from the ERN ReCONNET and collaborating partners
Luca Iaccarino, Rosaria Talarico, Emanuele Bozzalla-Cassione, Gerd R. Burmester, Emma L. Culver, Andrea Doria, Mikael Ebbo, P. Martin van Hagen, Eric Hachulla, Jan A.M. van Laar, Marco Lanzillotta, Fernando Martinez-Valle, Carlomaurizio Montecucco, Sara Monti, Cecilia Nalli, Nicolas Schleinitz, Angela Tincani, Emanuel Della-Torre, Tobias Alexander
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Anti-Ro52 antibodies positivity in antisynthetase syndrome: a single centre cohort study
Emanuele Bozzalla-Cassione*, Giovanni Zanframundo*, Alessandro Biglia, Elisa Bellis, Sara Bozzini, Veronica Codullo, Valentina Vertui, Claudia Alpini, Adele Valentini, Lorenzo Preda, Carlomaurizio Montecucco, Federica Meloni, Lorenzo Cavagna
* equally contributed to this work
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Capillary leak syndrome in a patient with cancer-associated anti-transcriptional intermediary factor 1γ dermatomyositis treated with rituximab
Bianca Lucia Palermo*, Francesca Bottazzi*, Eduardo Dourado, Veronica Codullo, Luca Civardi, Giovanni Zanframundo, Lorenzo Cavagna
*Both authors contributed equally to the development of the paper and should be considered first authors
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Respiratory failure due to concomitant interstitial lung disease and diaphragmatic involvement in a patient with anti-MDA5 dermatomyositis: a case report
Silvia Grignaschi, Silvia Mongodi, Enrico Alfonsi, Francesco Mojoli, Valentina Vertui, Giovanni Zanframundo, Lorenzo Cavagna
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Efficacy of intravenous immunoglobulin in shrinking lung syndrome associated with mixed connective tissue disease: a case report
Manuel Silvério-António, Nikita Khmelinskii, João Eurico Fonseca
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Health-related quality of life in patients with mixed connective tissue disease: a comparison with matched systemic sclerosis patients
Imane Abouyahya*, Sophie I.E. Liem*, Zahir Amoura, João E. Cabral da Fonseca, Benjamin Chaigne, Maurizio Cutolo, Andrea Doria, Rebecca Fischer-Betz, Vera Guimaraes, Tom W.J. Huizinga, Jaap M. van Laar, Thierry Martin, Marco Matucci-Cerinic, Carlomaurizio Montecucco, Matthias Schneider, Vanessa Smith, Ulf Müller-Ladner, Jeska K. de Vries-Bouwstra
* equally contributed
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Rare within rare. Necrotising scleritis and peripheral ulcerative keratitis: eye-threatening complications of relapsing polychondritis
Laura Damian, Cristina Pamfil, Camelia Bucșa, Cristina Nicula, Luc Mouthon, Zahir Amoura, Maurizio Cutolo, Gerd-Rüdiger Burmester, João Eurico Fonseca, Lucica Grapini, Laurent Arnaud, Simona Rednic
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Treatment of relapsing polychondritis: a systematic review
Arthur Petitdemange, Cédric Sztejkowski, Laura Damian, Thierry Martin, Luc Mouthon, Zahir Amoura, Maurizio Cutolo, Gerd R. Burmester, João E. Fonseca, Simona Rednic, Laurent Arnaud
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Sjögren’s syndrome and other rare and complex connective tissue diseases: an intriguing liaison
Chiara Baldini, Laurent Arnaud, Tadej Avčin, Lorenzo Beretta, Chiara Bellocchi, Coralie Bouillot, Gerd-Rüdiger Burmester, Lorenzo Cavagna, Maurizio Cutolo, Jeska K. de Vries-Bouwstra, Andrea Doria, Francesco Ferro, João Eurico Fonseca, Silvia Fonzetti, Giovanni Fulvio, Ilaria Galetti, Jacques-Eric Gottenberg, Eric Hachulla, Thomas Krieg, Gaetano La Rocca, Thierry Martin, Marco Matucci-Cerinic, Pia Moinzadeh, Carlomaurizio Montecucco, Marta Mosca, Luc Mouthon, Ulf Müller-Ladner, Simona Rednic, Vanessa Smith, Rosaria Talarico, Jacob M. van Laar, Ana Vieira, Vasco C. Romão, Xavier Mariette
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Rare clinical manifestations in systemic lupus erythematosus: a review on frequency and clinical presentation
Chiara Tani, Elena Elefante, Laurent Arnaud, Sofia C. Barreira, Inita Bulina, Lorenzo Cavagna, Nathalie Costedoat-Chalumeau, Andrea Doria, João Eurico Fonseca, Franco Franceschini, Micaela Fredi, Luca Iaccarino, Maarten Limper, Judit Majnik, Gyorgy Nagy, Cristina Pamfil, Simona Rednic, John A. Reynolds, Maria G. Tektonidou, Anne Troldborg, Giovanni Zanframundo, Marta Mosca
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

Rarities in rare: illuminating the microvascular and dermal status in juvenile localised scleroderma. A case series
Amber Vanhaecke*, Dieneke Schonenberg-Meinema*, Sofie De Schepper, Sandy C. Bergkamp, Maria Comasia Leone, Maritza A. Middelkamp-Hup, Amara Nassar-Sheikh Rashid, J. Merlijn van den Berg, Taco W. Kuijpers, Annamaria Iagnocco, Maurizio Cutolo, Vanessa Smith
*These authors share first authorship
Clin Exp Rheumatol 2022; 40 (Suppl. 134)

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