Relapsing polychondritis (RPC) is an uncommon autoimmune systemic disease characterized by recurrent inflammation of the cartilage tissue. It can occur alone or in association with other autoimmune diseases, vasculitis, or hematologic disorders. However, the association of RPC with dermatomyositis is extremely rare. Herein, we present a case of a 38-year-old man who developed concurrent RPC and clinically amyopathic dermatomyositis (CADM) manifested by auricular chondritis, nasal chondritis, polyarthritis, gottron papules, fingertip papules, skin biopsy consistent with dermatomyositis, and positive antimelanoma differentiation-associated gene 5 (MDA5) antibodies. RPC features resolved with corticosteroids, but CADM manifestations were resistant to corticosteroids, cyclophosphamide, azathioprine, and hydroxychloroquine. Subsequent therapy with rituximab was effective to control CADM manifestations. This case highlights the importance of recognizing CADM as part of the autoimmune diseases linked with RPC and maintaining a high level of awareness to initiate effective therapy to avoid the long-term complications associated with these conditions.

Rafael A. Ríos-Rivera

Luis M. Vilá

Coexistent Relapsing Polychondritis and Clinically Amyopathic Dermatomyositis: A Rare Association of Autoimmune Disorders

Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease with an unknown entity that affects the skin and the peripheral and/or axial joints. Here, we report on a patient with SAPHO syndrome complicated by lesions of the central nervous system who was successfully treated with brodalumab, an IL-17 receptor blocker. He had been suffering from arthralgia in the wrists and knees as well as axial symptoms such as back pain and assimilation of cervical vertebrae. He had been treated with corticosteroid, salazosulfapyridine, methotrexate, and bisphosphonate; however, his peripheral and axial articular manifestation were intractable. Recently, biologics predominantly targeting TNF-α is employed for difficult-to-treat SAPHO cases; however, he had been complicated with the lesions of the central nervous system resembling multiple sclerosis (MS), an inflammatory demyelinating disorder in the central nervous system, for which application of TNF-α inhibitor is contraindicated. Alternatively, brodalumab was administered , which promptly ameliorated the articular manifestations without aggravating the lesions of the central nervous system. We propose that this type of IL-17 blockade could be an alternative therapy for DMARDs-resistant SAPHO syndrome.

Masahide Funabiki

Masayuki Tahara

Seiko Kondo

Naho Ayuzawa

Hidetoshi Yanagida

SAPHO Syndrome Complicated by Lesions of the Central Nervous System Successfully Treated with Brodalumab

We report a patient with catastrophic antiphospholipid syndrome who had significant improvement after corticosteroids, plasmapheresis, argatroban, rituximab, and sirolimus. Argatroban was used instead of heparin due to a history of heparin-induced thrombocytopenia.

Haytham Hasan

Ivana Surjancev

Jon A. Arnason

Shivani Garg

William Nicholas Rose

Corticosteroids, Plasmapheresis, Argatroban, Rituximab, and Sirolimus Provided Clinical Benefit for Catastrophic Antiphospholipid Syndrome in a Patient with a History of Heparin-Induced Thrombocytopenia

Antisynthetase syndrome is a rare autoimmune disease within the subset of idiopathic inflammatory myopathies. The diagnostic criteria include the presence of an aminoacyl-tRNA synthetase antibody, and typical clinical findings, including myositis, mechanic’s hands, Raynaud phenomenon, unexplained fever, and interstitial lung disease. We describe a case of a 59-year-old male who presented with a 1-month history of progressive purplish discoloration and pain of the fingertips, dyspnea, cough, weight loss, fatigue, and who developed progressive proximal muscle weakness and dysphagia. Investigations revealed pulmonic valve and mitral valve marantic endocarditis, pulmonary embolism, myositis, organizing pneumonia, and elevation of anti-OJ antibodies. He was diagnosed with antisynthetase syndrome and treated with high dose corticosteroids and mycophenolate mofetil with a fair response.

Anusha Vege

Jesse Beery

Areeba Kara

Antisynthetase Syndrome in a Patient with Pulmonary Embolism and Nonbacterial Thrombotic Endocarditis

Introduction. SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory condition describing the constellation of inflammatory skin, bone, and joint manifestations which result in diagnostic difficulty and therapeutic challenge. Case. Here, we present a case of a young male diagnosed with SAPHO syndrome with osteoarticular and cutaneous involvement from an early age in his life. He suffered diagnostic challenges for a long time and was hence inadequately treated. He had minimal response to conventional DMARDs but showed excellent response to TNF inhibitor (adalimumab). Later, he defaulted treatment and presented with acute anterior uveitis which was also dramatically improved with adalimumab and tofacitinib although financial constraint was always an issue for the patient. Conclusion. The uniqueness of this case was that the patient had a multiorgan involvement including osteoarticular system, skin, and eye. Both TNFi (adalimumab) and JAKinib (tofacitinib) had a good response to all organs with a net improvement in the quality of life of this patient.

Ritasman Baisya

Meghna Gavali

Mudit Tyagi

Phani Kumar Devarasetti

A Case of SAPHO Syndrome Complicated by Uveitis with Good Response to Both TNF Inhibitor and JAKinib

Diffuse alveolar hemorrhage (DAH) is described as the collection of blood in alveolar spaces caused by damaged pulmonary vasculature. It often presents as a life-threatening medical emergency that requires urgent medical intervention along with timely diagnosis and management of the underlying cause. We hereby report a 19-year-old female who presented with clinical and radiological characteristics consistent with DAH. Laboratory workup studies revealed a diagnosis of systemic lupus erythematosus (SLE) as well as Mycobacterium tuberculosis (MTB) infection. This report describes an extremely unusual case of undiagnosed SLE and coexistent tuberculosis presenting as DAH. This leads to an interesting possibility of risks in patients with immune-mediated vasculitis towards developing severe pulmonary disease in the setting of pulmonary mycobacterial infection.

Henna Iqbal

Benny Screws

Muhammad S. Khan

A Case of Previously Undiagnosed Systemic Lupus Erythematosus and Mycobacterium tuberculosis Infection Presenting as Diffuse Alveolar Hemorrhage

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Case Reports in Rheumatology publishes case reports and case series on paediatric and adult rheumatological and musculoskeletal conditions, including novel therapies and advances in surgery and imaging.

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Case Reports in Rheumatology - Table of contents 2023

title

Case Reports in Rheumatology publishes case reports and case series on paediatric and adult rheumatological and musculoskeletal conditions, including novel therapies and advances in surgery and imaging.

Case Reports in Rheumatology