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Celebrating Rare Diseases Month: Rare, but Frequently Seen by Rheumatologists

Guest Editor:

Sandro Félix Perazzio, MD, PhD, Federal University of São Paulo, Brazil

Submission Status: Closed


This collection is no longer accepting submissions.


Advances in Rheumatology is calling for submissions to our collection on Celebrating Rare Diseases Month: Rare, but Frequently Seen by Rheumatologists. The articles included in this fascicle will provide invaluable insights into the latest research and clinical advances in the field of rare rheumatological diseases, highlighting new therapeutic approaches and emerging technologies that promise to revolutionize the way these conditions are treated. Readers can expect to gain a comprehensive understanding of the epidemiology, pathophysiology, and clinical manifestations of these rare diseases, as well as the latest evidence-based recommendations for their management.

This Collection supports and amplifies research related to SDG 3.

Image credit: Dr. Sandro Félix Perazzio

  1. Amyloidosis is a localized or systemic disease caused by deposition of proteins in the extracellular space of various organs and tissues. As part of the disease, proteins that were originally soluble misfold a...

    Authors: Ivanio Alves Pereira, Nilton Salles Rosa Neto, Renan Rodrigues Neves Ribeiro do Nascimento, Eutilia Andrade Medeiros Freire, Fabricio de Souza Neves, Blanca Elena Rios Gomes Bica, Frederico Augusto Gurgel Pinheiro, Sandro Félix Perazzio, Rafael Alves Cordeiro, Henrique Ayres Mayrink Giardini, Valderilio Feijo Azevedo and Flavio Roberto Sztajnbok
    Citation: Advances in Rheumatology 2024 64:71
    Content type: Review Published on:

  2. Systemic autoinflammatory diseases (SAIDs) arise from dysregulated innate immune system activity, which leads to systemic inflammation. These disorders, encompassing a diverse array of genetic defects classifi...

    Authors: Kátia Tomie Kozu, Renan Rodrigues Neves Ribeiro do Nascimento, Patrícia Pontes Aires, Rafael Alves Cordeiro, Thais Costa Lima de Moura, Flavio Roberto Sztajnbok, Ivanio Alves Pereira, Adriana Almeida de Jesus and Sandro Félix Perazzio
    Citation: Advances in Rheumatology 2024 64:62
    Content type: Review Published on:

  3. Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-m...

    Authors: Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D’Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flavio Roberto Sztajnbok, Nilton Salles Rosa Neto and Sandro Félix Perazzio
    Citation: Advances in Rheumatology 2024 64:59
    Content type: Review Published on:

  4. Sarcoidosis is a systemic inflammatory disease of unknown origin, which consists of the formation of multiple sterile noncaseating granulomas. Inhaled antigens are believed to initiate disease in prone individ...

    Authors: Fabricio Souza Neves, Ivanio Alves Pereira, Flavio Sztajnbok and Nilton Salles Rosa Neto
    Citation: Advances in Rheumatology 2024 64:57
    Content type: Review Published on:

  5. Immunoglobulin G4-related disease is a systemic immune-mediated disease with insidious evolution characterized by fibroinflammatory lesions over virtually any organ system. Despite the remarkable progression o...

    Authors: Frederico Augusto Gurgel Pinheiro, Ivanio Alves Pereira, Alexandre Wagner Silva de Souza, Henrique Ayres Mayrink Giardini and Rafael Alves Cordeiro
    Citation: Advances in Rheumatology 2024 64:35
    Content type: Review Published on:

  6. Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesi...

    Authors: Nilton Salles Rosa Neto, Ivânio Alves Pereira, Flávio Roberto Sztajnbok and Valderílio Feijó Azevedo
    Citation: Advances in Rheumatology 2024 64:32
    Content type: Review Published on:

  7. Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of t...

    Authors: Blanca E R G Bica, Alexandre Wagner S de Souza and Ivânio Alves Pereira
    Citation: Advances in Rheumatology 2024 64:29
    Content type: Review Published on:

  8. Hemophagocytic lymphohistiocytosis (HLH) is a rare genetic hyperinflammatory syndrome that occurs early in life. Macrophage activation syndrome (MAS) usually refers to a secondary form of HLH associated with a...

    Authors: Flavio Sztajnbok, Adriana Rodrigues Fonseca, Leonardo Rodrigues Campos, Kátia Lino, Marta Cristine Félix Rodrigues, Rodrigo Moulin Silva, Rozana Gasparello de Almeida, Sandro Félix Perazzio and Margarida de Fátima Fernandes Carvalho
    Citation: Advances in Rheumatology 2024 64:28
    Content type: Review Published on:

  9. Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculosk...

    Authors: Rafael Alves Cordeiro, Nilton Salles Rosa Neto and Henrique Ayres Mayrink Giardini
    Citation: Advances in Rheumatology 2024 64:22
    Content type: Review Published on:

  10. Despite their rarity, Lyme disease and Whipple’s disease are of significant importance in rheumatology, as both can manifest as chronic arthritis, presenting challenges in the differential diagnosis of inflamm...

    Authors: Henrique Ayres Mayrink Giardini, Fabricio Souza Neves, Ivanio Alves Pereira and Rafael Alves Cordeiro
    Citation: Advances in Rheumatology 2024 64:16
    Content type: Review Published on:

  11. Behçet’s disease (BD) is a systemic vasculitis that can affect multiple systems, including the skin, mucous membranes, joints, eyes, gastrointestinal and nervous. However, the pathogenesis of BD remains unclea...

    Authors: Dan Hu and Jian-Long Guan
    Citation: Advances in Rheumatology 2023 63:49
    Content type: Review Published on:

About the collection

Advances in Rheumatology is calling for submissions to our collection on Celebrating Rare Diseases Month: Rare, but Frequently Seen by Rheumatologists. We are pleased to announce the forthcoming release on February 2024 of a fascicle of Advances in Rheumatology, which will be exclusively dedicated to rare rheumatological diseases. This fascicle will contain articles authored by leading experts in the field, covering a wide range of topics related to the diagnosis, treatment, and management of these rare conditions.

The articles included in this fascicle will provide invaluable insights into the latest research and clinical advances in the field of rare rheumatological diseases, highlighting new therapeutic approaches and emerging technologies that promise to revolutionize the way these conditions are treated. Readers can expect to gain a comprehensive understanding of the epidemiology, pathophysiology, and clinical manifestations of these rare diseases, as well as the latest evidence-based recommendations for their management.

We are confident that this fascicle will be an indispensable resource for rheumatologists, primary care physicians, and other healthcare professionals involved in the care of patients with rare rheumatological diseases. It will also serve as a platform for researchers to exchange ideas and collaborate on innovative studies aimed at advancing our understanding of these complex conditions.

Submission Guidelines

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This Collection welcomes submission of Research Articles, Data Notes, Case Reports, Study Protocols, and Database Articles. Before submitting your manuscript, please ensure you have read our submission guidelines. Articles for this Collection should be submitted via our submission system, Editorial Manager. During the submission process you will be asked whether you are submitting to a Collection, please select "Celebrating Rare Diseases Month: Rare, but Frequently Seen by Rheumatologists" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Editor has no competing interests with the submissions which he will handle through the peer review process. The peer review of any submissions for which the Editor has competing interests is handled by another Editorial Board Member who has no competing interests.