Sarcoidosis Research Articles

A Case of Atypical Presentation of Morpheaform Verrucous Sarcoidosis

Morpheaform verrucous sarcoidosis is a rare variation of cutaneous sarcoidosis that is characterized by prominent, localized keratotic plaques on the skin. The etiology of this condition is unknown, and the current literature is limited. Sarcoidosis is typically a systemic condition with high incidence in the African-American population, and cutaneous presentation without systemic manifestation is exceedingly rare. This report details the challenging identification of this condition given the patient's history of multiple concurrent autoimmune and inflammatory conditions. Only nine cases of morpheaform sarcoidosis have been reported in the literature. This case demonstrates the complexity of diagnosing cutaneous sarcoidosis if the clinical systemic symptoms have not yet fully developed. It is important to take a multi-disciplinary approach with dermatology, rheumatology, and pulmonology to arrive at the correct diagnosis as cutaneous lesions can mimic several different cutaneous dermatoses. Therefore, physicians should consider morpheaform sarcoidosis on the differential in patients who present with indurated and eroded verruciform plaques.

Efficacy and safety of Infliximab in systemic sarcoidosis according to GenPhenReSa organ-involvement phenotype: a retrospective study of 55 patients

BackgroundInfliximab is currently recommended as a third-line treatment for refractory sarcoidosis. Data in function of clinical phenotype are currently lacking. We evaluated patients’ characteristics and responses to infliximab according to their GenPhenReSa cluster.MethodsWe evaluated clinical and biological characteristics of patients diagnosed with sarcoidosis who received infliximab between September 2008 and April 2019 at our centre.ResultsFifty-five patients (median disease duration, 87 months) received infliximab: 48 (87%) as a second- or third-line treatment, and 7 (13%) as a first-line treatment. After a median duration of 12 months, 24 (45%) and 14 (25%) patients achieved complete and partial responses, respectively, together with a significant decrease in the number of affected organs and tapering of steroid doses. All patients with neurosarcoidosis (OR 17), 90% in group 2 (ocular-cardiac-cutaneous-CNS, OR 7.4), and approximately two-thirds of those in groups 1 (abdominal organs), 4 (pulmonary-lympho-nodal), and 5 (extrapulmonary), achieved a response, whereas patients in group 3 (musculoskeletal-cutaneous) had a treatment-failure OR of 9. Infliximab could be stopped after complete remission was achieved in 7 patients: 4 relapsed after a median of 6 months. Overall, 36% of patients experienced serious adverse events, mainly infections, which led to treatment cessation in 29% of patients and caused two deaths.ConclusionsOther than patients with musculoskeletal-cutaneous involvement (group 3), infliximab led to a good response for patients with CNS (group 2) and liver (group 1) organ-predominant sarcoidosis. However, it led to serious infections and merely suspended sarcoidosis, so further research on factors predictive of relapse is needed.

Metabolism-driven glycosylation represents therapeutic opportunities in interstitial lung diseases.

Metabolic changes are coupled with alteration in protein glycosylation. In this review, we will focus on macrophages that are pivotal in the pathogenesis of pulmonary fibrosis and sarcoidosis and thanks to their adaptable metabolism are an attractive therapeutic target. Examples presented in this review demonstrate that protein glycosylation regulates metabolism-driven immune responses in macrophages, with implications for fibrotic processes and granuloma formation. Targeting proteins that regulate glycosylation, such as fucosyltransferases, neuraminidase 1 and chitinase 1 could effectively block immunometabolic changes driving inflammation and fibrosis, providing novel avenues for therapeutic interventions.

Pulmonary Recurrence of Colorectal Mucinous Adenocarcinoma and Sarcoidosis on 18 F-FDG PET/CT.

A 67-year-old woman, previously diagnosed with pulmonary sarcoidosis and sigmoid colon mucinous adenocarcinoma with pulmonary metastasis, showed an enlarged pulmonary nodule in routine follow-up. Because of the absence of treatment for either condition over the past 3 years, the nodule raised concerns of cancer recurrence or sarcoidosis progression. Its distinctive 18 F-FDG PET/CT appearance, compared with other pulmonary lesions, suggested a mucinous histology. The diagnosis was confirmed by pathological examination. This emphasizes the importance of knowledge of the 18 F-FDG PET/CT phenotype of neoplastic histological variants to address challenging diagnostic scenarios.

Cardiac Involvement in Neurosarcoidosis: A Single-Center Investigation

Sarcoidosis is a multisystem inflammatory granulomatous disease. Among systemic sarcoidosis manifestations, cardiac or nervous system involvement can result in significant morbidity and mortality. We describe the overlapping incidence of cardiac sarcoidosis (CS) within a neurosarcoidosis (NS) cohort and determine the frequency of other nonsarcoid cardiac diseases in these patients. We performed a retrospective chart review of patients evaluated at the University of Utah from 2010 to 2022. Patients were included if they had (1) at least one instance of a diagnostic code for sarcoidosis in their medical record-International Classification of Diseases (ICD) 9 code 135 or ICD 10 code D86; (2) at least one outpatient visit in the Neurology Department within the University of Utah electronic health record with a diagnosis of definite, probable, or possible NS based on 2018 consensus criteria; (3) at least one outpatient visit in the Cardiology Department within the University of Utah electronic health record; and (4) ECG available in their medical record for review. Of 64 definite, probable, or possible patients with NS in the University of Utah cohort, 52 met our inclusion criteria and were included in this study. Of 52 patients with NS who met our inclusion criteria, 65.38% were female, with an average age of 60.9 years (range 38-84). More than half (58%) were obese (BMI ≥ 30). CS was diagnosed in 6 patients with NS (12%). Symptoms suggestive of possible cardiac dysfunction included lower extremity edema (50%), palpitations (46%), chest pain (44%), and shortness of breath (27%). ECG abnormalities included nonspecific T-wave change (40%) and right bundle branch block (17%). Three patients experienced ventricular tachycardia: sustained in one patient and nonsustained in 2 patients. Cardiac MRI was performed in 17 patients (32.7%) and in 3 patients (17.6%), which revealed diffuse myocardial enhancement suggesting CS. In this cohort, 12% of patients with NS also had confirmed CS. In addition, these patients had a high burden of cardiovascular disease not directly attributed to sarcoidosis. Our data suggest that patients with NS require comprehensive cardiac evaluation. Future studies are needed to clarify the extent of the direct contribution of granulomatous inflammation on the cardiovascular system from the indirect contribution of treatments such as glucocorticoids that lead to increased risk of cardiovascular disease in sarcoidosis.

Kidney manifestations of sarcoidosis

Renal involvement is a clinically relevant organ manifestation of sarcoidosis, leading to increased morbidity and complications. Although the exact incidence remains unknown, renal disease is likely to occur in up to one third of all sarcoidosis patients. Every patient with newly diagnosed sarcoidosis should receive a renal work-up and screening for disrupted calcium metabolism.Amid various forms of glomerulonephritis, granulomatous interstitial nephritis is the most common one, but it rarely leads to renal impairment. Histologically, granulomas can be absent. Nephrocalcinosis and nephrolithiasis are frequent forms when hypercalcaemia or hypercalciuria occur. Drugs used for treatment of systemic sarcoidosis can also cause renal damage.Due to its high heterogeneity, renal sarcoidosis can be difficult to treat. Glucocorticoids and various immunosuppressive treatments have been proven to be effective based on case series, but clinical trials are lacking. A treatment guideline for renal sarcoidosis is urgently needed.In this review article, we present an overview of the different forms of renal sarcoidosis and the diagnostic steps to confirm renal involvement; in addition, we provide insights on the management and available treatments. A better understanding regarding the pathogenesis of sarcoidosis is the key for the development of more specific, targeted therapies.

Sarcoidosis of the Skin as an Interdisciplinary Problem

Sarcoidosis is a disease of unknown etiology characterized by the formation of epithelioid cell granulomas in several organs or tissues without caseous necrosis (fibrinoid necrosis may occur). With sarcoidosis, almost all organs and tissues can be affected, which determines the interdisciplinary nature of the problem. Skin sarcoidosis is one of the most common manifestations of systemic sarcoidosis. At the same time, the role of dermatologists in the diagnosis of sarcoidosis is exceptionally large, since skin lesions are often the key to the discovery of systemic sarcoidosis, which allows internists to purposefully and timely diagnose and treat lesions of internal organs. Skin rashes in patients with sarcoidosis may occur secondarily against the background of specific lesions of the lungs, intrathoracic nodes and other internal organs, however, skin sarcoidosis may also develop primarily. All forms of skin sarcoidosis may be the only manifestation of the disease, and it is impossible to distinguish clinically and histologically between skin changes in systemic sarcoidosis and skin lesions alone. Treatment of skin sarcoidosis often presents great difficulties and includes, depending on the prevalence and activity of the process, local (corticosteroids, tacrolimus) and systemic therapy (immunomodulators, immunosuppressors, TNF inhibitors).

Relative incidence of interstitial lung diseases in Brazil.

To assess the relative frequency of incident cases of interstitial lung diseases (ILDs) in Brazil. This was a retrospective survey of new cases of ILD in six referral centers between January of 2013 and January of 2020. The diagnosis of ILD followed the criteria suggested by international bodies or was made through multidisciplinary discussion (MDD). The condition was characterized as unclassifiable ILD when there was no specific final diagnosis following MDD or when there was disagreement between clinical, radiological, or histological data. The sample comprised 1,406 patients (mean age = 61 ± 14 years), and 764 (54%) were female. Of the 747 cases exposed to hypersensitivity pneumonitis (HP)-related antigens, 327 (44%) had a final diagnosis of HP. A family history of ILD was reported in 8% of cases. HRCT findings were indicative of fibrosis in 74% of cases, including honeycombing, in 21%. Relevant autoantibodies were detected in 33% of cases. Transbronchial biopsy was performed in 23% of patients, and surgical lung biopsy, in 17%. The final diagnoses were: connective tissue disease-associated ILD (in 27%), HP (in 23%), idiopathic pulmonary fibrosis (in 14%), unclassifiable ILD (in 10%), and sarcoidosis (in 6%). Diagnoses varied significantly among centers (c2 = 312.4; p < 0.001). Our findings show that connective tissue disease-associated ILD is the most common ILD in Brazil, followed by HP. These results highlight the need for close collaboration between pulmonologists and rheumatologists, the importance of detailed questioning of patients in regard with potential exposure to antigens, and the need for public health campaigns to stress the importance of avoiding such exposure.

Therapeutic Pathways in Sarcoidosis. A Position Paper of the German Society of Respiratory Medicine (DGP)

The present recommendations on the therapy of sarcoidosis of the German Respiratory Society (DGP) was written in 2023 as a German-language supplement and update of the international guidelines of the European Respiratory Society (ERS) from 2021. It contains 5 PICO questions (Patients, Intervention, Comparison, Outcomes) agreed in the consensus process, which are explained in the background text of the four articles: Confirmation of diagnosis and monitoring of the disease under therapy, general therapy recommendations, therapy of cutaneous sarcoidosis, therapy of cardiac sarcoidosis.

Ocular sarcoidosis, to screen or not to screen?

Ocular sarcoidosis most commonly presents with symptoms and is first diagnosed before systemic sarcoidosis in at least half of the patients with sarcoidosis. Prevalence of ocular involvement in sarcoidosis varies between 2-80% depending on the study setting, included ocular diseases, and studied population. In many studies, ocular involvement in sarcoidosis has been overestimated mainly because study populations have been collected from eye clinics and because the study criteria have included ocular findings or symptoms that do not require treatment or monitoring. In a screening setting, asymptomatic ocular sarcoidosis has been detected in only 2-5%. 0-1% of the screened sarcoidosis patients have required treatment. For these reasons, ocular screening in sarcoidosis seems generally of little value. Patients with sarcoidosis who present with ocular symptoms should be screened for ocular sarcoidosis in a timely manner because they are at high risk of ocular disease.

Bilateral Lumbosacral Plexopathy As the Initial Manifestation of Systemic Sarcoidosis: A Case Report

Bilateral Lumbosacral Plexopathy As the Initial Manifestation of Systemic Sarcoidosis: A Case Report

High-Risk Sarcoidosis: A Focus on Pulmonary, Cardiac, Hepatic and Renal Advanced Diseases, as Well as on Calcium Metabolism Abnormalities.

Although sarcoidosis is generally regarded as a benign condition, approximately 20-30% of patients will develop a chronic and progressive disease. Advanced pulmonary fibrotic sarcoidosis and cardiac involvement are the main contributors to sarcoidosis morbidity and mortality, with failure of the liver and/or kidneys representing additional life-threatening situations. In this review, we discuss diagnosis and treatment of each of these complications and highlight how the integration of clinical, pathological and radiological features may help predict the development of such high-risk situations in sarcoid patients.

Pulmonary Artery Aneurysm Associated with Sarcoidosis in a 75-year-old with Heart Failure: The Challenges of Diagnosis and Management.

Pulmonary artery aneurysm (PAA) is a rare abnormality of pulmonary vasculature. It can be idiopathic or secondary to various pathologies, frequently with multiple factors leading to its formation. We report the case of a man with concomitant sarcoidosis and PAA. A 75-year-old male with a diagnosis of pulmonary sarcoidosis was referred to the Cardiology department due to heart failure with reduced left ventricular ejection fraction (LVEF). The transthoracic echocardiogram revealed mildly reduced LVEF, aortic root and pulmonary artery (PA) dilatation, and no signs of pulmonary hypertension (PH). Cardiac magnetic resonance imaging was performed, revealing mild left ventricular dilation, LVEF of 40%, main PA dilation (43 mm) and a pattern of late gadolinium enhancement suggestive of cardiac sarcoidosis. At follow-up, a thoracic computed tomography (CT) angiography scan revealed ascending aorta ectasia and giant main PA aneurysm (60 mm). A right heart catheterisation was performed, and a mean PA pressure of 34 mmHg was obtained. Given the clinical context, the patient was considered to have PH due to lung disease and left heart disease, and PAA was possible due to vascular granulomatous involvement by sarcoidosis. PAA is a rare finding and mostly occurs in the setting of PH. Sarcoidosis is a granulomatous disease that mostly affects the lungs, but the sarcoid involvement of great vessels has been described. In this clinical case, the probable cause for the PA fragility leading to aneurysm formation remains sarcoid vascular infiltration, regarding the discrepancy between the PA dimensions and mildly elevated PA pressure. Pulmonary artery aneurysm is a rare abnormality of pulmonary vasculature that can be idiopathic or a consequence of pulmonary hypertension, congenital heart disease, infection, vasculitis or collagenopathies.Due to the low incidence of this disease, there are no guidelines for its diagnosis, management or follow-up, and treatment is based on the underlying aetiology, aneurysm dimensions and occurrence of symptoms.Sarcoidosis is a multisystem disorder of unknown aetiology characterised by non-caseating granulomas that mostly involve the lungs, but can also affect skin, eyes, and lymph nodes. Sarcoid involvement of great vessels has been rarely described.

Evolving Fuchs' uveitis - A diagnostic challenge.

To study cases of Fuchs' uveitis (FU) diagnosed as uveitis other than FU at initial visits. A retrospective, observational chart review. Details of clinical presentation, initial diagnosis, treatment details, and follow-up before and after the diagnosis of FU was studied. Twenty eyes of 19 patients finally diagnosed with FU. Mean total follow-up was 39 months (range: 3-120 months, median: 30 months) and follow-up after diagnosis of FU was 18 months (range: 0-84 months, median: 11 months). Most of the cases were diagnosed with anterior plus intermediate uveitis at the presentation (n = 8, 42.1%) and received steroid treatment. Keratic precipitates (KPs) typical of FU developed after mean 5.4 months of presentation (range: 1-18 months, median: 2 months). Altered iris pattern was noted after 17 months of presentation (range: 2-70 months, median: 8.5). Vitritis of grades 1-2 was present in all eyes. Overlap of uveitis of other etiology (retinal vasculitis, presumed tubercular intermediate uveitis) was found in three patients. Systemic immune disease (systemic lupus erythematosus, pulmonary sarcoidosis) was present in two patients. No treatment for the ocular inflammation was given after the diagnosis of FU in any patient and no change in the pattern of FU was observed during further follow-up. Evolving FU may lead to misdiagnosis and mismanagement. We suggest a conservative approach, withholding steroid treatment, allowing FU to evolve, in otherwise asymptomatic patients with white eye, mild to moderate anterior chamber (AC) and vitreous inflammation, absent posterior synechiae and normal fundus examination or fundus examination suggestive of resolved uveitis.

Sarcoidosis. A review of diagnosis, clinical features and treatment

Introduction: Sarcoidosis is a progressive chronic multisystemic inflammatory disease of unclear pathogenesis, which presents with noncaseating granulomas and is complicated to diagnose due to the variable clinical presentation of patients. Sarcoidosis may attack any organ, but especially the pulmonary, cutaneous, lymphatic, ocular, hepatic and splenic systems. The most frequent presentations are prolonged cough, rash, visual problems, peripheral lymphadenopathy, tiredness, and occasional abnormality of the chest X-ray. The diagnostic evaluation of sarcoidosis is difficult and often involves a combined effort of clinical data and appropriate imaging modalities. Purpose: The purpose of this article is to review the available literature on the epidemiology, clinical manifestations and management of patients with sarcoidosis Materials and method: The available literature in PubMed was reviewed to write the article, using the keywords ,,sarcoidosis”, ,,cardiac sarcoidosis”, ,,pulmonary sarcoidosis” and ,,cutaneous sarcoidosis”. Conclusion: Sarcoidosis is associated with a significant increase in patient mortality, as well as decreased quality of life and physical disability. Efforts to accurately predict disease progression allow for more comprehensive and personalized patient care. As a life threatening disease, sarcoidosis needs to be diagnosed early and treated appropriately.

The clinical, dermoscopic, and histopathologic differentiation of cutaneous leishmaniasis from cutaneous sarcoidosis and tuberculosis: A review article

Leishmaniasis is a neglected tropical disease caused by infected female sandflies (Phlebotomus and Lutzomyia), which are vector-borne protozoan parasites belonging to the genus Leishmania. The diagnosis of cutaneous leishmaniasis (CL) can be challenging and delayed, particularly in areas where leishmaniasis is not endemic. CL is known as “the great imitator” because it can mimic many skin disorders due to its various clinical manifestations. Cutaneous sarcoidosis (CS) and cutaneous tuberculosis (CTB), which are also known as “the great imitators,” should be differentiated from CL due to the common clinical, dermoscopic, and histopathologic features. In this article, we aim to help clinicians differentiate CL by listing its clinical manifestations those are similar to CS and CTB and highlighting common and uncommon dermoscopic and histopathologic findings. We have also created a brief approach to diagnose CL, CS, and CTB, which is presented as a diagram. A search was performed on PubMed and Google Scholar using the keywords CL, CTB, CS, and granulomatous disease for all articles, with no restrictions. Updated articles on leishmaniasis, tuberculosis, and sarcoidosis, including some new concepts in clinical presentations, dermoscopy, and histopathology, were reviewed.

Living with lung complications of sarcoidosis

Sarcoidosis is an inflammatory condition that can affect any part of the body, but most commonly affects the lungs. Many people with lung (pulmonary) sarcoidosis have manageable disease that does not impact them in the long term. However, some patients with pulmonary sarcoidosis develop complications that cause long-term (chronic) symptoms, such as shortness of breath and cough. These symptoms impair quality of life and may impair a person's ability to complete everyday activities at work and at home. Complications of pulmonary sarcoidosis also worsen the outcome of the disease (prognosis). It is important for patients with sarcoidosis to be aware of the journey that they may face with the disease so that they can better understand their condition and be part of decisions about their care. This article, co-authored by an experienced clinician and a patient, provides information for patients living with pulmonary sarcoidosis.

Sarcoidosis and Polymethyl Methacrylate (PMMA) Granulomas following COVID-19 Vaccination (ChAdOx1): Successful Treatment with Tofacitinib.

Sarcoidosis and complications related to fillers have been reported following the COVID-19 vaccination. Additionally, cutaneous sarcoidosis has been observed around polymethyl methacrylate (PMMA) injection sites. Foreign-body reactions to PMMA can occur simultaneously with systemic sarcoidosis, suggesting a shared pathogenic mechanism between both conditions. To report a case of sarcoidosis and PMMA granulomas following COVID-19 vaccination (ChAdOx11), successfully treated with tofacitinib. We present a 59-year-old woman who developed systemic sarcoidosis and a granulomatous reaction to PMMA filler following the COVID-19 vaccination (ChAdOx11). Notably, both PMMA and the vaccine were potential triggers for sarcoidosis. Treatment with tofacitinib produced marked improvement in both the cutaneous and pulmonary involvement of sarcoidosis and the granulomatous reaction to PMMA. This successful outcome suggests tofacitinib, a pan-JAK inhibitor, an alternative treatment for cutaneous and systemic sarcoidosis, as well as a potential therapy for granulomatous complications of dermal fillers, such as PMMA.

Use of registry surveys in cutaneous sarcoidosis

Use of registry surveys in cutaneous sarcoidosis

Chronic cutaneous sarcoidosis: Disparate impact on patients with skin of colour

Chronic cutaneous sarcoidosis: Disparate impact on patients with skin of colour