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Orphanet Journal of Rare Diseases

Rare systemic diseases

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  1. Content type: Research

    There is no established treatment of AA amyloidosis, a long-term complication of various chronic inflammatory diseases associated with increased mortality, such as familial Mediterranian fever (FMF). Recently ...

    Authors: Serdal Ugurlu, Aysa Hacioglu, Yasaman Adibnia, Vedat Hamuryudan and Huri Ozdogan

    Citation: Orphanet Journal of Rare Diseases 2017 12:105

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  2. Content type: Research

    Vinblastine is the standard treatment for children with Langerhans cell histiocytosis (LCH). Whether this treatment could be extended to adults with LCH is questionable. This retrospective multicenter study in...

    Authors: Abdellatif Tazi, Gwenaël Lorillon, Julien Haroche, Antoine Neel, Stéphane Dominique, Achille Aouba, Jean-David Bouaziz, Constance de Margerie-Melon, Emmanuelle Bugnet, Vincent Cottin, Thibault Comont, Christian Lavigne, Jean-Emmanuel Kahn, Jean Donadieu and Sylvie Chevret

    Citation: Orphanet Journal of Rare Diseases 2017 12:95

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  3. Content type: Letter to the Editor

    Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links ...

    Authors: Helen Finnamore, B. Maneesha Silva, B. Mary Hickson, Kevin Whelan and Claire L. Shovlin

    Citation: Orphanet Journal of Rare Diseases 2017 12:60

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  4. Content type: Review

    Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians’ def...

    Authors: Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano and Isabelle Koné-Paut

    Citation: Orphanet Journal of Rare Diseases 2017 12:54

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  5. Content type: Review

    Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is impl...

    Authors: David N. Franz and Jamie K. Capal

    Citation: Orphanet Journal of Rare Diseases 2017 12:51

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  6. Content type: Research

    Light chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality ...

    Authors: Martha Bayliss, Kristen L. McCausland, Spencer D. Guthrie and Michelle K. White

    Citation: Orphanet Journal of Rare Diseases 2017 12:15

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  7. Content type: Research

    Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic co...

    Authors: Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen and John Rosendahl Østergaard

    Citation: Orphanet Journal of Rare Diseases 2017 12:4

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  8. Content type: Research

    The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated.

    Authors: Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, Gilles Devouassoux, Nathalie Freymond, Chahira Khouatra, Benoît Wallaert, Raphaelle Lamy, Mad-Hélénie Elsensohn…

    Citation: Orphanet Journal of Rare Diseases 2016 11:165

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  9. Content type: Research

    Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutat...

    Authors: Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller and Anders Green

    Citation: Orphanet Journal of Rare Diseases 2016 11:157

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  10. Content type: Research

    Epilepsy occurs in up to 90 % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are refractory to currently available treatment options.

    Authors: Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone and Martha Feucht

    Citation: Orphanet Journal of Rare Diseases 2016 11:145

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  11. Content type: Research

    Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...

    Authors: Joanna Trelinska, Wojciech Fendler, Iwona Dachowska, Katarzyna Kotulska, Sergiusz Jozwiak, Karolina Antosik, Piotr Gnys, Maciej Borowiec and Wojciech Mlynarski

    Citation: Orphanet Journal of Rare Diseases 2016 11:129

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  12. Content type: Research

    The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...

    Authors: Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser and René Wildenauer

    Citation: Orphanet Journal of Rare Diseases 2016 11:111

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  13. Content type: Research

    POEMS syndrome is a rare paraneoplastic syndrome due to an underlying plasma cell neoplasm. Hypogonadism is the most common endocrine abnormality in POEMS syndrome. There is no data about improvement of hypogo...

    Authors: Hongbo Yang, Xufei Huang, Qianqian Cai, Chen Wang, Xinxin Cao, Daobin Zhou and Jian Li

    Citation: Orphanet Journal of Rare Diseases 2016 11:80

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  14. Content type: Research

    Registration of trigger factors, prodromal symptoms, swelling localization, therapeutic behavior and gender-specific differences of the largest cohort of patients with hereditary angioedema due to C1-Inhibitor...

    Authors: Urs C. Steiner, Christina Weber-Chrysochoou, Arthur Helbling, Kathrin Scherer, Peter Schmid Grendelmeier and Walter A. Wuillemin

    Citation: Orphanet Journal of Rare Diseases 2016 11:43

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  15. Content type: Research

    Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisyste...

    Authors: Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal…

    Citation: Orphanet Journal of Rare Diseases 2016 11:26

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  16. Content type: Research

    Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose...

    Authors: Kristian A. Groth, Hanne Hove, Kasper Kyhl, Lars Folkestad, Mette Gaustadnes, Niels Vejlstrup, Kirstine Stochholm, John R. Østergaard, Niels H. Andersen and Claus H. Gravholt

    Citation: Orphanet Journal of Rare Diseases 2015 10:153

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  17. Content type: Research

    Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragment...

    Authors: Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett and Tarekegn Geberhiwot

    Citation: Orphanet Journal of Rare Diseases 2015 10:149

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  18. Content type: Research

    Behçet’s Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patient...

    Authors: Amal Senusi, Noha Seoudi, Lesley Ann Bergmeier and Farida Fortune

    Citation: Orphanet Journal of Rare Diseases 2015 10:117

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  19. Content type: Research

    Transthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the transthyretin gene. This study evaluated the safety, tolerability, pharmacokinetics, and pharma...

    Authors: Ole B Suhr, Teresa Coelho, Juan Buades, Jean Pouget, Isabel Conceicao, John Berk, Hartmut Schmidt, Márcia Waddington-Cruz, Josep M. Campistol, Brian R. Bettencourt, Akshay Vaishnaw, Jared Gollob and David Adams

    Citation: Orphanet Journal of Rare Diseases 2015 10:109

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  20. Content type: Research

    Relapsing polychondritis is a rare disease characterised by inflammation of cartilaginous and proteoglycan rich structures. As there are only a few published single centre case series from all across the world...

    Authors: Aman Sharma, Arjun Dutt Law, Pradeep Bambery, Vinay Sagar, Ajay Wanchu, Varun Dhir, Rajesh Vijayvergiya, Kusum Sharma, Ashok Gupta, Naresh K Panda and Surjit Singh

    Citation: Orphanet Journal of Rare Diseases 2014 9:198

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