Sarcoidosis is a multisystem granulomatous disease of unknown etiology. Vocal fold paralysis secondary to sarcoidosis is extremely rare but it can develop as a result of compressive lymphadenopathy, granulomatous infiltration, and neural involvement. We report the case of a 56-year-old woman who presented with unilateral vocal fold paralysis and enlarged supraclavicular lymph nodes. Computed tomography of the neck revealed multiple, enlarged, and matted lymph nodes at the cervical level of IV. An ultrasound-guided core needle biopsy of the lymph node was performed, and a histopathological diagnosis of sarcoidosis was made by validating the presence of noncaseating granuloma. After implementation of steroid therapy, the patient exhibited immediate recovery from vocal fold paralysis. Although an extremely rare disease, sarcoidosis should be included in the differential diagnosis of vocal fold paralysis. Accurate diagnosis and prompt steroid treatment may reduce the morbidity of patients with vocal fold paralysis secondary to sarcoidosis.
Biopsy, Large-Core Needle ; Diagnosis ; Diagnosis, Differential ; Female ; Granuloma ; Humans ; Lymph Nodes ; Lymphatic Diseases ; Middle Aged ; Neck ; Paralysis ; Rare Diseases ; Sarcoidosis ; Vocal Cords

Sarcoidosis is a multisystem disease characterized by noncaseating granulomas. Cardiac involvement is known to have poor prognosis because it can manifest as a serious condition such as the conduction abnormality, heart failure, ventricular arrhythmia, or sudden cardiac death. Although early diagnosis and early treatment is critical to improve patient prognosis, the diagnosis of CS is challenging in most cases. Diagnosis usually relies on endomyocardial biopsy (EMB), but its diagnostic yield is low due to the incidence of patchy myocardial involvement. Guidelines for the diagnosis of CS recommend a combination of clinical, electrocardiographic, and imaging findings from various modalities, if EMB cannot confirm the diagnosis. Especially, the role of advanced imaging such as cardiac magnetic resonance (CMR) imaging and positron emission tomography (PET), has shown to be important not only for the diagnosis, but also for monitoring treatment response and prognostication. CMR can evaluate cardiac function and fibrotic scar with good specificity. Late gadolinium enhancement (LGE) in CMR shows a distinctive enhancement pattern for each disease, which may be useful for differential diagnosis of CS from other similar diseases. Effectively, T1 or T2 mapping techniques can be also used for early recognition of CS. In the meantime, PET can detect and quantify metabolic activity and can be used to monitor treatment response. Recently, the use of a hybrid CMR-PET has introduced to allow identify patients with active CS with excellent co-localization and better diagnostic accuracy than CMR or PET alone. However, CS may show various findings with a wide spectrum, therefore, radiologists should consider the possible differential diagnosis of CS including myocarditis, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy, amyloidosis, and arrhythmogenic right ventricular cardiomyopathy. Radiologists should recognize the differences in various diseases that show the characteristics of mimicking CS, and try to get an accurate diagnosis of CS.
Amyloidosis ; Arrhythmias, Cardiac ; Arrhythmogenic Right Ventricular Dysplasia ; Biopsy ; Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; Cicatrix ; Death, Sudden, Cardiac ; Diagnosis ; Diagnosis, Differential ; Early Diagnosis ; Electrocardiography ; Electrons ; Gadolinium ; Granuloma ; Heart Defects, Congenital ; Humans ; Incidence ; Magnetic Resonance Imaging ; Myocarditis ; Positron-Emission Tomography ; Prognosis ; Sarcoidosis ; Sensitivity and Specificity

A 52-year-old woman presented with erythematous nodules and swelling on both upper eyelids. She had a surgical history of blepharoplasty about 10 years previously. Skin biopsy revealed non-caseating granulomas in the dermis. Mycobacterium tuberculosis (MTB) polymerase chain reaction (PCR) testing of the tissue sample was positive. In addition, the serum interferon gamma release assay (IGRAs) result was positive. Based on the positive result of MTB PCR and IGRAs, a diagnosis of tuberculosis was made. Despite a 2-month treatment with anti-tuberculosis medication, the skin lesions worsened. An additional skin biopsy was taken and AFB stain, AFB culture, and MTB PCR of the tissue were all negative. Four months after systemic corticosteroid treatment, the skin lesion had almost cleared. Considering that there have been many reports of positive results of MTB PCR in sarcoidosis tissue and IGRAs, a diagnosis of tuberculosis based on the results of PCR and IGRAs needs to be interpreted with caution. Also, evaluation of other organ involvement including the lungs can be helpful in making a correct diagnosis.
Biopsy ; Blepharoplasty ; Dermis ; Diagnosis ; Eyelids* ; Female ; Granuloma ; Humans ; Interferons ; Lung ; Middle Aged ; Mycobacterium tuberculosis ; Polymerase Chain Reaction ; Sarcoidosis* ; Skin ; Tuberculosis ; Tuberculosis, Cutaneous*

We present a patient diagnosed with skin sarcoidosis, breast cancer, pulmonary tuberculosis, and peritoneal sarcoidosis with a past history of colorectal cancer. During stage work up for breast cancer, suspicious lesions on peritoneum were observed in imaging studies. Considering our patient's history and imaging findings, we initially suspected peritoneal carcinomatosis. However, the peritoneal lesion was diagnosed as sarcoidosis in laparoscopic biopsy. This case demonstrates that abdominal sarcoidosis might be considered as a differential diagnosis when there is a lesion suspected of being peritoneal carcinomatosis with nontypical clinical presentations.
Biopsy ; Breast Neoplasms ; Carcinoma* ; Colorectal Neoplasms ; Diagnosis, Differential ; Humans ; Peritoneum ; Sarcoidosis* ; Skin ; Tuberculosis, Pulmonary

Sarcoidosis is a chronic granulomatous disease, involving multisystem, confirmed by the presence of non-caseating granulomas. Sinonasal involvement in sarcoidosis is rare and difficult to diagnose since the symptoms of nasal obstruction and rhinitis are nonspecific. The diagnosis of sarcoidosis begins with clinical suspicion, followed by with imaging, and finally confirmed with tissue biopsy. In this study, we report a case of sarcoidosis of the nasal septum, which was early confirmed by a biopsy of the nasal septum and hilar lymph node.
Biopsy ; Diagnosis ; Granuloma ; Granulomatous Disease, Chronic ; Lymph Nodes ; Nasal Obstruction ; Nasal Septum* ; Rhinitis ; Sarcoidosis*

Scar sarcoidosis is a cutaneous manifestation of sarcoidosis arising on old cutaneous scars. We report four cases of scar sarcoidosis after blepharoplasty. Lesions were seen to manifest as erythematous, firm, and non-tender nodules diffusely palpable along an upper eyelid scar. Histologically, numerous non-caseating granulomas with multinucleated giant cells were seen. No other evidence of systemic sarcoidosis was observed in any patient. Although rare, sarcoidosis may occur in an eyelid scar after a blepharoplasty. Therefore, scar sarcoidosis should be considered in the differential diagnosis in patients presenting with unusual nodules in blepharoplasty scars.
Blepharoplasty* ; Cicatrix* ; Diagnosis, Differential ; Eyelids ; Giant Cells ; Granuloma ; Humans ; Sarcoidosis*

BACKGROUND: Since the introduction of endobronchial ultrasound (EBUS)–guided transbronchial needle aspiration (TBNA) of mediastinal lymph nodes, the incidence of histopathologically-confirmed sarcoidosis has increased. METHODS: The electronic medical records of Chonnam National University (CNU) Hospital and CNU Hwasun Hospital (CNUHH) were searched for confirmed cases of sarcoidosis diagnosed between 1996 and 2014. Cases were selected using a combination of clinical, radiological, and pathological evidence. Of 115 cases with the relevant disease codes, 16 cases were excluded, as they had not been confirmed pathologically or had no definitive clinical features of sarcoidosis. RESULTS: Among 99 cases of confirmed sarcoidosis, only nine patients were diagnosed with sarcoidosis before 2008; the rest were diagnosed from 2008 onward, after the introduction of EBUS-TBNA. EBUS-TBNA was used in 75.8% of patients, open surgical biopsy in 13.2%, and mediastinoscopic biopsy in 5.1%. At the time of diagnosis, 42.4% of sarcoidosis cases were at stage I, 55.6% at stage II, and 2% at stage III. Spontaneous remission of sarcoidosis was observed in 33.3% of cases, and stable disease in 37.4%; systemic steroid treatment was initiated in 23.2% of cases. Of the patients treated with systemic steroids, 69.6% showed improvement. The median duration of steroid treatment was 5 months. CONCLUSION: Following the introduction of EBUS-TBNA, the number of newly diagnosed sarcoidosis patients has increased. Clinical features of sarcoidosis were similar to those previously reported. Spontaneous remission occurred in about one-third of patients, while one-fourth of patients required systemic steroid treatment.
Biopsy ; Bronchoscopy ; Diagnosis ; Electronic Health Records ; Endoscopic Ultrasound-Guided Fine Needle Aspiration ; Humans ; Incidence ; Jeollanam-do ; Korea* ; Lymph Nodes ; Needles ; Remission, Spontaneous ; Sarcoidosis* ; Steroids ; Ultrasonography

Sarcoidosis is a multi-organ disease with various clinical manifestations. The lung is the most common site of manifestation; however, unusual findings may delay the correct diagnosis of sarcoidosis. Here we report a case of 32-year-old man with 4-month history of neck mass. Radiological findings revealed multiple pulmonary parenchymal nodules, with initial biopsy results of his neck lymph node showing chronic granuloma with focal necrosis. The patient was treated with anti-tuberculosis medications, but the size of the nodules did not change. Biopsy was performed from one of his pulmonary nodules, which revealed chronic granuloma without necrosis. Therefore, the patient was diagnosed with sarcoidosis. We present a case of sarcoidosis with multiple lung parenchymal nodules that is uncommon in Korea, with an aim to alert physicians of such unusual presentations.
Adult ; Biopsy ; Diagnosis ; Granuloma ; Humans ; Korea ; Lung* ; Lymph Nodes ; Multiple Pulmonary Nodules ; Neck ; Necrosis ; Sarcoidosis*

No abstract available.
Diagnosis, Differential ; Female ; Humans ; Middle Aged ; Neck/diagnostic imaging ; Parotid Gland/*pathology ; Parotid Neoplasms/diagnosis/diagnostic imaging/pathology ; Sarcoidosis/*diagnosis/diagnostic imaging ; Tomography, X-Ray Computed ; Ultrasonography

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation that causes BS. A girl, aged 8 years, and her brother, aged 10 years, developed erythematous skin rashes and uveitis. The computed tomography angiogram of the younger sister showed features of midaortic dysplastic syndrome. The brother had more prominent joint involvement than the sister. Their father (38 years) was also affected by uveitis; however, only minimal skin involvement was observed in his case. The paternal aunt (39 years) and her daughter (13 years) were previously diagnosed with sarcoidosis. Mutational analysis revealed a novel c.1439 A>G mutation in the NOD2 gene in both siblings. The novel c.1439 A>G mutation in the NOD2 gene was found in a familial case of BS. Although BS is rare, it should always be considered in patients presenting with sarcoidosis-like features at a young age. Early diagnosis of BS and prompt multisystem workup including the eyes and joints can improve the patient's outcome.
Arthritis ; Dermatitis ; Early Diagnosis ; Exanthema ; Fathers ; Female ; Humans ; Joints ; Nuclear Family ; Polymorphism, Single Nucleotide ; Sarcoidosis ; Siblings ; Skin ; Uveitis