Multicentric reticulohistiocytosis unveiled: A complex journey through rheumatological challenges and therapeutic triumphs

Clinical Cases 18.07.2024
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Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 41 years, female
Authors: Tjaša Kitanovski 1, Žan Garvas 2, Jaka Regvat 1
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Details
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AI Report

Clinical History

A 41-year-old woman with a history of ulcerative colitis presented with worsening joint pain aggravated by activity and morning joint stiffness. Examination showed tender wrists, MCPs, PIPs, and DIPs, along with erythematous papules on the face and chest. Further investigations, including laboratory tests and radiographic imaging, were ordered.

Imaging Findings

Radiographs of hands and feet revealed symmetric erosive changes in multiple proximal and distal interphalangeal, and metacarpophalangeal joints, with both peripheral and central bone erosions, indicative of an inflammatory arthritis. There was no periosteal new bone formation nor osteopenia. Joint spaces appeared widened in multiple places (Figures 1, 2a and 2b). Ultrasound confirmed synovial proliferation and erosions in metatarsophalangeal joints, correlating with clinical symptoms. Additionally, an MRI of the sacroiliac joints ruled out sacroiliitis.

Discussion

Multicentric reticulohistiocytosis (MRH) presents diagnostic challenges due to its rarity and varied clinical manifestations involving the skin, joints, and sometimes internal organs. MRH is characterised by histiocytic infiltration of tissues, leading to the formation of nodules and papules on the skin and erosive changes in the joints. Although its exact prevalence is unknown, MRH is reported predominantly in Western countries and Japan, with a higher occurrence in middle-aged women [1,2].

Early and accurate diagnosis of MRH is vital for preventing progressive joint damage and disability. Clinical, radiographic, and histologic features are pivotal in distinguishing MRH from other inflammatory arthropathies. Key characteristics of MRH encompass cutaneous nodules, typical joint symptoms, and specific radiographic findings. Skin nodules typically manifest on the face, chest, and hands, with a distinctive “coral bead” appearance around the nails [1–3].

Radiographically, MRH is distinguished by polyarticular and symmetric erosive changes devoid of osteopenia or periostitis. Erosions advance from the joint margins, extending to the entire joint surface, with characteristic widened joint spaces, cartilage loss, and subchondral bone resorption, primarily affecting distal interphalangeal joints (DIP), while also involving proximal interphalangeal (PIP), metacarpophalangeal (MCP), and wrist joints [2,3].

Angular deformities and soft tissue swelling, particularly around DIP joints, are prevalent, with joint destruction leading to arthritis mutilans. It can also affect other joints such as hips, knees, and the cervical spine, with possible involvement of the C1/C2 joint. Diagnosis is then confirmed through histopathological examination of mucocutaneous nodules, which was also done in the described case, confirming MRH [1–3].

Given MRH’s 25% association with malignancies, additional cancer screening is advised. The patient underwent abdominal ultrasound, gynaecological, and breast assessments, all yielding normal results [1,2].

Managing MRH is complex due to its rarity and variable course. Treatment focuses on symptom control and halting disease progression. Early use of disease-modifying antirheumatic drugs (DMARDs) like methotrexate, often combined with corticosteroids, is standard. Biologic agents targeting tumour necrosis factor (TNF) show efficacy, especially in refractory cases. Cyclophosphamide may be considered for severe manifestations [1]. In our case, the patient switched to Tofacitinib due to intolerance to corticosteroids and methotrexate, considering comorbidities and the potential efficacy of JAK inhibitors in MRH [4].

Ongoing monitoring is crucial for assessing treatment response and disease activity. Despite treatment advancements, MRH remains challenging, necessitating further research for optimal therapeutic strategies [1–3].

In conclusion, early and accurate diagnosis of MRH is essential for effective treatment and improved outcomes. Radiographic imaging plays a crucial role in identifying characteristic erosive changes, highlighting the importance of radiology in the diagnostic process and ongoing monitoring of disease progression.

All patient data have been completely anonymised throughout the entire manuscript and related files.

Differential Diagnosis List

Rheumatoid arthritis
Psoriatic arthritis
Gout
Inflammatory bowel disease (IBD) related arthritis
Erosive osteoarthritis
Multicentric reticulohistiocytosis
Dermatomyositis

Final Diagnosis

Multicentric reticulohistiocytosis

Figures

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P-A X-ray of hands showing diffuse symmetric central and peripheral erosive changes of PIP, DIP, and wrist joints, with widen

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DP X-ray of feet in a patient with multicentric reticulohistiocytosis showing narrowing of joint spaces in IP, PIP, and DIP joints with marginal and central erosions. Marked narrowing of the 1st MTP joint with marginal erosions. Widening of the fifth MTP joint spaces can be seen.
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DP X-ray of feet in a patient with multicentric reticulohistiocytosis showing narrowing of joint spaces in IP, PIP, and DIP joints with marginal and central erosions. Marked narrowing of the 1st MTP joint with marginal erosions. Widening of the fifth MTP joint spaces can be seen.