Multicentric Reticulohistiocytosis - A Rare Clinicopathological Entity

This is a rare case report of a thirty-eight-year-old male who presented with multiple asymptomatic hyper-pigmented papulonodular lesions on the face for the past two years without the association of pain or pruritus and with restriction of elbow movements. The diagnosis of multicentric reticulohistiocytosis was made on histopathological findings of Touton type of giant cells and sheets of foamy histiocytes along with immunohistochemistry (IHC) studies. Workup was done for other associated diseases. Multicentric reticulohistiocytosis (MRH) is also known as lipoid dermatitis,1 a rare disease which is characterised by the presence of extensive papulonodular cutaneous eruptions and severe, sometimes destructive arthropathy, followed by eruption of the skin and mucous membrane lesion.2,3 It’s a rare idiopathic nonLangerhans cell histiocytosis.4 This disorder is characterised by predominant cutaneous manifestation and joint involvements. The lesions may show regression and recurrence, many case studies show an association of this lesion with internal malignancies, autoimmune diseases, hyperlipidaemias, and tuberculosis.5,6 Few cases have shown musculoskeletal involvement with features such as myositis. The disease was described initially as reticulocytosis granuloma in 1952 by Caro and Senear, later the term was coined by Goltz and Laymon as multicentric reticulohistiocytosis in 1954.4 It is also known by different names such as giant cell histiocytosis, lipoid dermato-arthritis, lipoid-rheumatism and reticulohistiocytosis granuloma. The disease incidence is very low worldwide, less than 200 cases have been reported in literature5 and reports from India are limited.

Tofacitinib in the treatment of skin and musculoskeletal involvement in patients with systemic sclerosis, evaluated by ultrasound

Systemic sclerosis (SSc) is a rare autoimmune connective tissue disease characterized by fibrosis of the skin and internal organs, autoimmunity-driven damage and vasculopathy. The current approved disease-modifying treatments have limited efficacy, and treatment is guided toward alleviating organ complications. Thus, there is an unmet need for discovering new effective treatment options. There is recent evidence that the JAK/STAT signaling pathway is markedly activated in SSc patients. To assess the efficacy and safety of tofacitinib (TOF) on skin and musculoskeletal involvement as compared to methotrexate (MTX) in systemic sclerosis (SSc). In this 52-week pilot study, 66 patients with SSc were enrolled: 33 patients received 5 mg of oral TOF twice a day; 33 received 10 mg of MTX weekly. The proportion of dcSSc and lcSSc patients was similar (dcSSc: 42% TOF group and 36% MTX group; lcSSc: 58% TOF group and 64% MTX group). The primary outcome was the change in the modified Rodnan skin score (mRSS). Secondary outcomes included ultrasound (US) skin thickness and musculoskeletal involvement (US10SSc score). Digital ulcers (DUs) and adverse events (AEs) were documented through the treatment. Both groups had similar characteristics and medians on the outcome measures at baseline. At week 52, the TOF median mRSS was significantly lower than the MTX (p < 0.001) with a mean reduction of 13 points versus MTX 2.57. The mean percent improvement in the TOF group was 44% higher than in the MTX group. TOF median US skin thickness was significantly lower than MTX (p < 0.001), with a mean reduction of 0.31 mm versus 0.075 mm in the MTX group. The US10SSc median score was significantly lower in the TOF group (p = 0.002); mean reduction of 10.21 versus 5.27 in the MTX group. Healing of DUs with no new occurrences was observed in the TOF group. There was no significant difference between the groups in the number of AEs from baseline to week 52. TOF showed greater efficacy than MTX in reducing mRSS, skin thickness and musculoskeletal involvement in SSc and a satisfactory safety profile.

Comparison of Clinical and Demographic Features of FMF with Sacroiliitis Patients with FMF and Axial Spondyloarthritis Patients

Objectives Familial Mediterranean fever (FMF) is the most common autoinflammatory disease, characterised by recurrent fever and serositis attacks lasting 1–3 days. Musculoskeletal involvement is the second most common manifestation in FMF patients. Sacroiliitis is another musculoskeletal involvement; as there is no spinal involvement, this is called FMF with sacroiliitis. This study was designed to investigate the clinical, demographic and genetic features of FMF in sacroiliitis patients and to compare them with axial SpA and FMF patients. Materials and Methods Forty-two FMF with sacroiliitis patients, 100 axial SpA patients and 100 FMF patients were recruited, and their demographic characteristics were recorded. Evidence of sacroiliitis was confirmed by sacroiliac joint MRI, and patients were examined for arthritis and enthesitis. MEFV gene mutations, HLA B27 positivity and ESR and CRP results were compared. Results In the FMF with sacroiliitis group, the M694V mutation was detected in 59.5% of patients. FMF with sacroiliitis patients were largely (83.3%) negative for HLA B27. The frequency of enthesitis was similar between FMF with sacroiliitis and axial SpA, and the frequency of arthritis was higher in axial SpA patients. Inflammatory markers (ESR and CRP) were statistically higher in FMF with sacroiliitis patients compared with axial SpA and FMF patients. Conclusion When all three groups were compared, the M694V mutation was more common, HLA B27 was largely negative and inflammatory markers were higher in the FMF with sacroiliitis group. FMF should be included in the differential diagnosis of sacroiliitis for managing treatment correctly and preventing complications.