Sarcoidose

PURPOSE OF REVIEW: Epidemiological and clinical observations as well as familial clustering support the existence of a genetic predisposition to sarcoidosis. In this article, we review the most recent findings in genetics of sarcoidosis and discuss how the identification of risk alleles may help advancing our understanding of disease etiology and development. RECENT FINDINGS: Genetic studies of sarcoidosis phenotypes have identified novel and ancestry-specific associations...

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No abstract text is available yet for this article.

Silicosis and sarcoidosis are two very distinct entities in the literature. All the additional non-invasive examinations, including the chest CT scan, often do not differentiate them. The history, including occupational exposure to identified silica particles, is a discriminating factor. However, due to the pathogenic power of silica, it would be possible to have the simultaneous development of these two pathologies in the same patient. To illustrate this situation, here is the case of a 62-year-old patient, who presented initially with a picture of dyspnea and productive cough...

INTRODUCTION: Sarcoidosis is a multisystemic granulomatous disease of unknown cause occurring in young adults. Cardiac sarcoidosis patients are at increased risk for atrioventricular blocks and ventricular arrhythmias. Sinus node dysfunction is scarcely reported. OBSERVATION: We report a case of cardiac sarcoidosis revealed by a sinus node dysfunction and focus on cardiac and thoracic imaging to guide diagnosis. CONCLUSION: Sinus node dysfunction may be the first manifestation of cardiac sarcoidosis...

PURPOSE: This study aims to investigate whether there is a significant difference between typical and atypical parenchymal patterns in the development of fibrosis, which is the most crucial factor affecting morbidity in pulmonary sarcoidosis. METHODS: In our hospital, 145 cases with Siltzbach Types 2 and 3 sarcoidoses diagnosed by clinical, radiological, and histopathologic were retrospectively investigated. Perilymphatic nodules, accompanying mosaic attenuation, and interlobular septal thickening and central peribronchovascular bunch-like thickening on high-resolution computed tomography were assessed as typical...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Inflammatory cardiomyopathies, also known as "myocarditis" are inflammatory pathologies affecting the myocardium and characterized by vast etiological and clinical heterogeneity. They can be asymptomatic, particularly in viral forms, or be responsible for sudden death, particularly in subjects under 35 years olds. Due to insufficient sensitivity and specificity of imaging and biology, the gold standard is histopathological and is performed on an endomyocardial biopsy or on explanted heart samples in a transplant context...

Bone location is uncommon in both sarcoidosis and in neck cancer (HNC). Diagnosis of a bone lesion is therefore challenging to distinguish its nature in a patient suffering from both diseases. We report the case of a 69-years-old woman referred for P16 positive HPV-HNC. Magnetic Resonance Imaging (MRI) showed T2 hypo-signal on iliac crest and spine. 18 FDG-PET demonstrated radiotracer uptake on these locations suggesting bone metastasis. However, bone biopsy showed epithelioid granuloma without malignant cells compatible with sarcoidosis location...

Granulomatous interstitial nephritis (NIG) is a rare form of interstitial nephritis that can be related to acute or chronic clinical presentation. NIG is characterized by granulomas located to the renal interstitium and composed of either epithelioid histiocytes with giant cells and/or of foreign body reaction. The symptoms are unspecific and associate varying degrees of renal failure with abnormal urinanalysis. Extra-renal signs may point to systemic disease. Pathological examination from kidney percutaneous biopsy or surgical resection is required to assert NIG diagnosis and to guide the etiological research...

Eye lesion in sarcoidosis is often the first and only sign of a disorder, which suggests a possible systemic disease. Currently sarcoidosis is considered a multisystemic granulomatous disease that requires multidisciplinary approach. PURPOSE: To study the prevalence and clinical aspects of sarcoidosis eyes based on the representative sample of patients diagnosed with extraocular nonspecific granulomatous disease. MATERIAL AND METHODS: The study included 417 patients with multi-organ sarcoidosis...

BACKGROUND: Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To find out relevant sarcoidosis predisposing genes, we searched for de novo and recessive mutations in 3 young probands with sarcoidosis and their healthy parents using a whole-exome sequencing (WES) methodology. METHODS: From the SARCFAM project based on a national network collecting familial cases of sarcoidosis, we selected three families (trios) in which a child, despite healthy parents, develop the disease before age 15 yr...

INTRODUCTION: The off-label use of TNF antagonists in refractory sarcoidosis is increasingly reported but data on their efficacy and safety are still insufficient. OBJECTIVE: To report on efficacy and safety of TNF antagonists in severe and refractory sarcoidosis. METHODS: Examination of retrospective demographic, clinical, therapeutic, and adverse event data on 132 sarcoidosis patients (58% women; mean (min-max) age = 45.5 (14-78) years) given TNF antagonists (mainly infliximab, 91%) and investigation of response-linked factors...

Digestive tract sarcoidosis (DTS) is rare and case-series are lacking. In this retrospective case-control study, we aimed to compare the characteristics, outcome, and treatment of patients with DTS, nondigestive tract sarcoidosis (NDTS), and Crohn disease.We included cases of confirmed sarcoidosis, symptomatic digestive tract involvement, and noncaseating granuloma in any digestive tract. Each case was compared with 2 controls with sarcoidoisis without digestive tract involvement and 4 with Crohn disease.We compared 25 cases of DTS to 50 controls with NDTS and 100 controls with Crohn disease...

OBJECTIFS: La granulomatose rénale est une infiltration inflammatoire de l'interstitium rénal. Elle réalise un tableau de néphropathie tubulo-interstitielle dans la plupart des cas. L'hypertension artérielle complique exceptionnellement cette atteinte. MéTHODES: Nous rapportons une observation d'une granulomatose rénale compliquée d'hypertension artérielle maligne et d'insuffisance rénale aigue. RéSULTATS: Nous rapportons le cas de la patiente A. S âgée de 18 ans, sans antécédents notables, hospitalisée pour prise en charge d'une sarcoïdose sys-témique...

Induced sarcoïdosis during therapy with interferon for chronic viral hepatitis C involves mainly by isolated cutaneous lesions or with lung lesions. Systemic forms are very rare. We report an observation. A 50-year-old patient developed a systemic sarcoïdosis two months after the end of treatment for hepatitis C with pegylated interferon and ribavirin with lung, joint and hepatic manifestations. After starting corticosteroid therapy, the evolution was favourable. Induced sarcoïdosis by interferon therapy is rare, treatment necessitates stopping interferon, and sometimes corticosteroid therapy...

OBJECTIVE: To describe characteristics, risk factors, and treatment outcome of progressive multifocal leukoencephalopathy (PML) complicating sarcoidosis. METHODS: A retrospective chart and literature review was performed. Patients were identified through records from physicians of the Groupe Sarcoïdose Francophone. Each case was compared with 3 controls. RESULTS: Ten cases were found (8 men). The median age at sarcoidosis diagnosis was 34...

PURPOSE: To evaluate the use of BAL for the diagnosis of sarcoidosic uveitis. METHODS: Retrospective study of 109 consecutive patients with uveitis and minimum 2 signs of ocular sarcoidosis who had a BAL and chest imaging. BAL(+) was defined as an alveolar (a) lymphocytosis (L) aL > 15% with aCD4/CD8 > 3.5. Serum angiotensin converting enzyme (sACE), tuberculin skin test and gallium scan were tested in 83, 95 and 24 patients. RESULTS: BAL was + in 26...