Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
Anemia, Sickle Cell ; Arthritis, Infectious ; Cleidocranial Dysplasia ; Diagnosis ; Gardner Syndrome ; Hyperparathyroidism ; Klippel-Feil Syndrome ; Marfan Syndrome ; Neurofibromatosis 1 ; Osteopetrosis ; Pentalogy of Cantrell ; Poland Syndrome ; Polychondritis, Relapsing ; Retrospective Studies ; Rickets ; Scleroderma, Systemic ; Spondylitis, Ankylosing ; Sternoclavicular Joint ; Thalassemia ; Thoracic Wall ; Tuberculosis

Connective tissue disease (CTD) is a collection of disorders characterized by various signs and symptoms such as circulation of autoantibodies in the entire system causing damage to internal organs. Interstitial lung disease (ILD) which is associated with CTD is referred to as CTD-ILD. Patients diagnosed with ILD should be thoroughly examined for the co-occurrence of CTD, since the treatment procedures and prognosis of CTD-ILD are vary from those of idiopathic interstitial pneumonia. The representative types of CTD which may accompany ILD include rheumatoid arthritis, systemic sclerosis (SSc), Sjögren's syndrome, mixed CTD, idiopathic inflammatory myopathies, and systemic lupus erythematous. Of these, ILD most frequently co-exists with SSc. If an ILD is observed in the chest, high resolution computed tomography and specific diagnostic criteria for any type of CTD are met, then a diagnosis of CTD-ILD is made. It is challenging to conduct a properly designed randomized study on CTD-ILD, due to low incidence. Therefore, CTD-ILD treatment approach is yet to been established in absence of randomized controlled clinical trials, with the exception of SSc-ILD. When a patient is presented with acute CTD-ILD or if symptoms occur due to progression of the disease, steroid and immunosuppressive therapy are generally considered.
Arthritis, Rheumatoid ; Asian Continental Ancestry Group ; Autoantibodies ; Connective Tissue Diseases ; Connective Tissue ; Diagnosis ; Disease Management ; Guidelines as Topic ; Humans ; Idiopathic Interstitial Pneumonias ; Incidence ; Lung ; Lung Diseases, Interstitial ; Myositis ; Prognosis ; Scleroderma, Systemic ; Thorax

Primary biliary cholangitis (PBC) is an autoimmune liver disease characterized by progressive destruction of the intrahepatic bile ducts, leading to cholestasis. PBC is known to have both hepatic and extrahepatic manifestations. Extrahepatic manifestations are seen in up to 73% of patients with PBC, with the most common being Sjogren’s syndrome, thyroid dysfunction and systemic sclerosis. It is thought that patients with PBC are at increased risk of developing these extrahepatic manifestations, almost all of which are autoimmune, because patients with autoimmune disease are at higher risk of developing another autoimmune condition. Due to the high prevalence of extrahepatic diseases in patients with PBC, it is important to complete a thorough medical history at the time of diagnosis. Prompt recognition of extrahepatic disease can lead to improved patient outcomes and quality of life. The following review summarizes the most common extrahepatic conditions associated with PBC.
Autoimmune Diseases ; Bile Ducts, Intrahepatic ; Cholangitis* ; Cholestasis ; Diagnosis ; Humans ; Liver Diseases ; Prevalence ; Quality of Life ; Scleroderma, Systemic ; Thyroid Gland

OBJECTIVE: The neutrophil-to-lymphocyte ratio (NLR) is elevated in inflammatory diseases, but its clinical significance in systemic sclerosis (SSc) is unclear. This study evaluated NLR in diagnosing SSc and in predicting lung involvement such as interstitial lung disease (ILD). METHODS: The medical records of 88 patients with SSc and 50 healthy controls were reviewed. Exclusion criteria included active infection or the presence of any hematological, cardiovascular, or metabolic disorder. The NLR was compared between patients with SSc and healthy controls, and associations between NLR and lung involvement were analyzed. RESULTS: The NLR was significantly higher in patients with SSc compared to healthy controls (NLR, 3.95±6.59 vs. 2.00±1.07, p<0.01). Patients with SSc and ILD had higher NLR levels than those without ILD (p<0.01, p<0.05). NLR was negatively associated with forced vital capacity (r=−0.341, p<0.01), but not with diffusing capacity for carbon monoxide. Receiver-operating characteristics analysis of NLR to predict ILD in patients with SSc showed that the area under the curve was 0.763. The cut-off NLR value for prediction of lung involvement was determined to be 2.59 (sensitivity, 0.700; specificity, 0.729; p<0.01). CONCLUSION: NLR may be a promising marker that reflects ILD in patients with SSc, and values greater than 2.59 were useful in predicting ILD.
Blood Platelets ; Carbon Monoxide ; Diagnosis* ; Humans ; Lung ; Lung Diseases, Interstitial* ; Lymphocytes ; Medical Records ; Neutrophils ; Scleroderma, Systemic* ; Sensitivity and Specificity ; Vital Capacity

Nailfold capillaroscopy (NFC) is a non-invasive morphological study that routinely used to differentiate between a primary and secondary Raynaud's phenomenon (RP). Secondary RP is a manifestation of an underlying rheumatic disease that occurs in 80-95% of patients with systemic sclerosis (SSc), 75% of patients with mixed connective tissue disease and in 20-25% of patients with systemic lupus erythematosus or rheumatoid arthritis. These RP frequently precedes the underlying disease by many years. The well-established roles of NFC are the early diagnosis of SSc, and potential for predicting clinical complication, as like digital ulcers. The following review will present a technique about how to perform NFC and optimal assessment with emphasis on its possible role as a reliable diagnostic tool.
Arthritis, Rheumatoid ; Early Diagnosis ; Humans ; Lupus Erythematosus, Systemic ; Microscopic Angioscopy* ; Mixed Connective Tissue Disease ; Rheumatic Diseases* ; Scleroderma, Systemic ; Treatment Outcome* ; Ulcer

BACKGROUND: Pulmonary arterial hypertension (PAH) is a major cause of morbidity and mortality among patients with systemic sclerosis (SSc). Early detection and prompt treatment of PAH associated with SSc (SSc-PAH) result in better prognosis. We conducted echocardiographic study to presume the prevalence of PAH in Korean adult SSc patients and to diagnose SSc-PAH in their early stages with right heart catheterization (RHC). METHODS: We performed free of charge echocardiographic study including 37 adult SSc patients at the Chungnam National University Hospital. The possibility of PAH is determined by the estimation of pulmonary arterial pressure by peak tricuspid regurgitation velocity of > 3.0 m/s. Patients with possible PAH were recommended to undergo RHC to confirm the diagnosis. RESULTS: In 37 patients, 8 patients were suspected with PAH. Among them, 6 patients agreed to be examined with RHC, and 4 were confirmed with PAH. The prevalence of possible PAH was 21.6% (8 of 37 patients), and that of confirmed PAH was 10.8% (4 of 37 patients). Four patients who were confirmed with SSc-PAH through RHC have been treated with specific pulmonary vasodilators and maintained stable. CONCLUSION: Eight patients (21.6%) were possible PAH and 4 (10.8%) were diagnosed as SSc-PAH by RHC after the echocardiographic screening study of 37 adult SSc patients.
Adult* ; Arterial Pressure ; Cardiac Catheterization ; Cardiac Catheters ; Chungcheongnam-do ; Diagnosis ; Echocardiography* ; Humans ; Hypertension* ; Mass Screening* ; Mortality ; Prevalence* ; Prognosis ; Scleroderma, Systemic* ; Tricuspid Valve Insufficiency ; Vasodilator Agents

Diagnostic Errors ; Humans ; Pneumoconiosis ; diagnosis ; Scleroderma, Systemic ; diagnosis

BACKGROUND: An association between silica exposure and autoimmune diseases including rheumatoid arthritis, systemic sclerosis, systemic lupus erythematosus, and anti-neutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis has been made. CASE PRESENTATION: A 56-year-old male presented with silicosis and had an occupational history of precious metal processing for 30 years and a 30 pack-year smoking history. The patient was diagnosed with pneumoconiosis and received compensation. No other complications were reported for pneumoconiosis. The patient suddenly presented with a non-specific headache for several days and microscopic hematuria was identified upon examination in the outpatient clinic. Following several weeks, the patient presented with aggravated dyspnea and hemoptysis, and his Modification of Diet in Renal Disease estimated glomerular filtration rate indicated acute kidney injury. Diagnostic analysis revealed perinuclear ANCA-associated microscopic polyangiitis (p-ANCA-associated MPA). CONCLUSION: Exposure to silica dust was likely one of the cause of p-ANCA-associated MPA. Possible pathogenic mechanisms of autoimmune diseases in silicotics and emphasis of the necessity for early diagnosis are discussed.
Acute Kidney Injury ; Ambulatory Care Facilities ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Compensation and Redress ; Cytoplasm* ; Diagnosis* ; Diet ; Dust ; Dyspnea ; Early Diagnosis ; Glomerular Filtration Rate ; Headache ; Hematuria ; Hemoptysis ; Humans ; Lupus Erythematosus, Systemic ; Male ; Microscopic Polyangiitis* ; Middle Aged ; Occupational Exposure ; Pneumoconiosis ; Scleroderma, Systemic ; Silicon Dioxide ; Silicosis ; Smoke ; Smoking ; Vasculitis

OBJECTIVE: This study was designed to assess sequential association between right ventricular systolic pressure and cardiothoracic (C/T) ratio of chest radiography in systemic sclerosis (SSc) patients and inferred pulmonary arterial hypertension by increased C/T ratio and right ventricular systolic pressure. METHODS: Twenty-eight consecutive patients with confirmed SSc (22 females, 6 males; mean age 51.1+/-2.1 years), with a mean time of 91.0+/-6.7 months from SSc diagnosis, were prospectively included in the study. C/T ratio was obtained by chest radiography with an interval of two years. The first C/T ratio was taken at diagnosis and second C/T ratio was taken at the time of enrollment. The enrolled subjects were agree to undergo echocardiography and measurement of brain natriuretic peptide. RESULTS: In 24 SSc patients with normal right ventricular systolic pressure, 10 SSc patients had increased C/T ratio, the other four SSc patients with increased right ventricular systolic pressure by echocardiography, had increased C/T ratio all together. In four SSc patients with increased right ventricular systolic pressure, one patient had resting dyspnea, taken cardiac catheterization and confirmed as pulmonary hypertension and the other three patients had no clinical symptoms. The increased right ventricular systolic pressure is related to the increase of C/T ratio (>0.55) in chest radiography (p<0.05) and increased brain natriuretic peptide in blood (p<0.05). CONCLUSION: The increase of C/T ratio (>0.55) in chest radiography was associated with increased right ventricular systolic pressure measured by echocardiography and inferred a role in early detection of asymptomatic pulmonary arterial hypertension in SSc patients.
Blood Pressure* ; Cardiac Catheterization ; Cardiac Catheters ; Diagnosis ; Dyspnea ; Echocardiography ; Female ; Humans ; Hypertension ; Hypertension, Pulmonary ; Male ; Natriuretic Peptide, Brain ; Prospective Studies ; Radiography ; Scleroderma, Systemic* ; Thorax

Systemic sclerosis as a connective tissue disease could affect all internal organs of the body and could also manifest as a cutaneous lesion. Cardiac involvement leading to cardiac manifestations in systemic sclerosis patients is not rare. However, cardiac amyloidosis combined with systemic sclerosis is extremely rare. Although there were no definite treatment options in this case, symptomatic treatment is the cornerstone of the management plan. In this case report, we described a correct diagnosis and symptomatic medical care of early reactive cardiac amyloidosis with systemic sclerosis and summarize the current state of the relevant literature.
Amyloidosis* ; Cardiomyopathy, Restrictive ; Connective Tissue Diseases ; Diagnosis* ; Humans ; Scleroderma, Systemic*