Scleroderma is a systemic disorder with multiorgan involvement. About 90% of patients with scleroderma has Raynaud's phenomenon and microvascular involvement is well recognized in scleroderma, but macrovascular involvement is not recognized. We experienced 2 cases of scleroderma with peripheral vascular occlusions that had been diagnosed by fernoral angiography. The one patient with limited scleroderma had anticentromere antibody and angiography of both fernoral arteries showed nonvisualization of posterior tibial artery. The other patient with diffuse scleroderma had anti-Scl-70 antibody and angiography of right fernoral artery showed occlusion of both anterior and posterior tibial arteries and stenosis of distal portion of peronial artery. Both patients didn't have the risk factors of atherosclerosis such as hypertension, hypercholesterolemia, obesity, and smoking. In recent years, there have been reports that scleroderma is associated with macrovascular disease. In the future, the study on the freguency, prevention and treatment of macrovasular disease in scleroderma is necessary. We report 2 cases of scleroderma with peripheral vascular occlusions that had been diagnosed by fernoral angiography with review of literatures.
Angiography ; Arteries ; Atherosclerosis ; Constriction, Pathologic ; Humans ; Hypercholesterolemia ; Hypertension ; Obesity ; Peripheral Vascular Diseases* ; Risk Factors ; Scleroderma, Diffuse ; Scleroderma, Limited ; Smoke ; Smoking ; Tibial Arteries

BACKGROUND: Systemic sclerosis (scleroderma) is a connective tissue disorder of unknown etiology characterized by fibrosis of the skin and internal organs. It is remarkably heterogeneous in initial presentations and internal organ involvement. Limited and diffuse cutaneous subsets of systemic sclerosis (SSc) are known to be different in clinical and laboratory features. The aim of the present study was to determine the clinical characteristics of systemic sclerosis in Koreans. METHODS: Fifty-six patients with systemic sclerosis at the Rheumatology Clinic of Seoul National University Hospital were studied for age, sex, symptoms, signs, and laboratory results. The differences in clinical and laboratory features between limited and diffuse cutaneous subsets were investigated. RESULTS: The mean age at diagnosis of 56 patients (male:female=1:4.6) was 42.4 years (range 11-72 years). The patients consisted of 30 limited and 26 diffuse cutaneous SSc. Cutaneous involvement was as follows: sclerodactyly (100%), Raynaud's phenomenon (94.6%), digital pitting scar (66.1%), subcutaneous calcinosis (1.8%). In musculoskeletal system, 25 cases (46.3%) developed arthralgia/arthritis, 14 cases (25.9%) myalgia. In gastrointestinal system, esophagus was affected in 11 cases (20.7%). Respiratory involvement consisted of interstitial lung disease (24 cases, 43.7%) and pulmonary hypertension (2 cases, 3.6%). Total skin score and functional vital capacity showed significant negative correlation (p<0.05). Cardiovascular involvement consisted of congestive heart failure (3 cases, 5.5%) and pericardial effusion (1 case, 1.8%). Azotemia was found in one patient (1.8%). Antinuclear antibody was positive in 53 cases (94.6%) and anticentromere antibody 2 cases (3.6%). Anti-Scl 70 antibody was positive in 46.4% of all patients, 40.0% of limited scleroderma and 53.8% of diffuse scleroderma. When comparing clinical features between limited and diffuse cutaneous subsets, musculoskeletal involvement was more common in limited scleroderma. CONCLUSION: Systemic sclerosis in Koreans showed various systemic and organ involvement, musculoskeletal system, lung and esophagus being commonly affected. There was no significant difference between limited and diffuse scleroderma in clinical features except musculoskeletal involvement. Investigation of major internal organs, especially lung and esophagus, is needed, regardless of cutaneous subsets in systemic sclerosis.
Antibodies, Antinuclear ; Azotemia ; Calcinosis ; Cicatrix ; Connective Tissue ; Diagnosis ; Esophagus ; Fibrosis ; Heart Failure ; Humans ; Hypertension, Pulmonary ; Lung ; Lung Diseases, Interstitial ; Musculoskeletal System ; Myalgia ; Pericardial Effusion ; Rheumatology ; Scleroderma, Diffuse ; Scleroderma, Limited ; Scleroderma, Systemic* ; Seoul ; Skin ; Vital Capacity

The antiphospholipid syndrome is characterized by arterial thrombosis, venous thrombosis, pregnancy wastage, and thrombocytopenia associated with a persis tently positive lupus anticoagulant and/or moderate to high positive anticardiolipin antibodies(IgG or IgM). The antiphospholipid antibodies have been detected in many medical conditions, but the antiphospholipid syndrome (APS) has mainly been restricted to the primary antiphospholipid syndrome and APS associated with systemic lupus erythematosus. Rarely, the APS has been reported in other autoimmune disorders in the literature. We describe a woman with a limited form of scleroderma and the APS manifested by complete occlusion of left axillary artery with probable thrombotic occlusive nature, thrombocytope nia, prolonged aPTT, and persistently positive lupus anticoagulant.
Antibodies, Antiphospholipid ; Antiphospholipid Syndrome* ; Axillary Artery ; Female ; Humans ; Lupus Coagulation Inhibitor ; Lupus Erythematosus, Systemic ; Pregnancy ; Scleroderma, Limited* ; Thrombocytopenia ; Thrombosis ; Venous Thrombosis

No abstract available.
CREST Syndrome*

No abstract available.
CREST Syndrome* ; Nifedipine

CREST syndrome is an indolent form of systemic sclerosis and refers to the manifestations of calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasias. We report a typical case of CREST syndrome in a 67-year-old woman, who presented with extensive, hard, calcified nodules and plaques on her shins, fingers, pelvis, and shoulder.
Aged ; Calcinosis* ; CREST Syndrome* ; Esophageal Motility Disorders ; Female ; Fingers ; Humans ; Pelvis ; Scleroderma, Systemic ; Shoulder ; Telangiectasis

OBJECTIVE: Anti-centromere antibody (ACA) is known to be specific for CREST syndrome, but individual studies showed variations in its distribution among related diseases. According to the authors'study on 56 ACA positive patients, 37 patients were known to have rheumatoid arthritis (RA). As a consequence, the authors studied the clinical significance of ACA positive RA patients. MEHTODS: Specific clinical findings, radiologic studies, and laboratory data were investigated on 72 ACA positive and on 50 ACA negative RA patients. ACA tests were performed by indirect immunoflourescence assay with IT-1 cell line using IT-AIT kit (ImmunoThink(r), Korea) RESULTS: No specific differences were noted between the ACA positive and the negative group of RA. However, there were a few notable findings between the low titer and the high titer group of ACA positive RA. In comparison with the low titer group, the high titer group showed lesser disease activity, more cases of seronegative RA (39.2%<4.8%), fewer radiologic evidences (45.1%<71.4%), more cases accompanied with Raynaud's phenomenon (15.7%>4.8%) and thyroid diseases (11.8%>0%). They generally showed atypical RA patterns and the antibodies tend to remain at high titer state. CONCLUSION: Since the high titer ACA group of RA patients showed specific clinical findings, it is thought to be necessary to classify such group into a new subset of RA. And such classification would be helpful in diagnosing some atypical forms of RA patients. More studies on these new types of patients as well as their prognoses should be investigated in the future.
Antibodies ; Arthritis, Rheumatoid* ; Cell Line ; Classification ; CREST Syndrome ; Humans ; Prognosis ; Thyroid Diseases

Crossed pulmonary arteries is an uncommon anomaly in which the ostium of the left pulmonary artery originates superiorly and to the right of the right pulmonary artery. The pulmonary arteries then cross each other and supply their respective lungs. The recognition of this rare anomaly is important because of its association with significant cardiac and extracardiac congenital abnormalities. These congenital conotruncal malformations have long been considered part of the clinical spectrum of DiGeorge syndrome, velocardiofacial(Shprintzen) syndrome, and conotruncal face syndrome. More recent reports have shown that a high percentage of patients with these syndromes have microscopic deletions of chromosomal region 22q11. We experienced a case of crossed branch pulmonary arteries in Dandy-Walker malformation. The diagnosis of crossed branch pulmonary arteries was made by echocardiography and this case had no evidence of 22q11 deletion in high resolution chromosome study and fluorescence in situ hybridization. This case of both conotruncal malformation and Dandy-Walker malformaltion was due to an abnormal developmental process involving the neural crest. We report this case with related literature.
Congenital Abnormalities ; Dandy-Walker Syndrome* ; Diagnosis ; DiGeorge Syndrome ; Echocardiography ; Fluorescence ; Humans ; In Situ Hybridization ; Lung ; Neural Crest ; Pulmonary Artery*

The CRST syndrome, first reported by Winterbauer, represents a benign variant of scleroderma and consists of calcinosis(C), Raynauds phenomenon(R), sclerodactyly(S) and telangiectasia(T). The authors report a case of CRST syndrome confirmed by both clinical and histopathological findings. A 62-year-old female developed subcutaneous nodules on both elbow and knee joints, Raynauds phenomenon, sclerodactyly with acrosclerosis and scleroderrnatous changes on both hands and forearms and telangiectasia on the face, neck, and hands of 15 years duration, but she had no difficulty in swallowing. The authors treated a case of CRST syndrome with weekly intra-arterial administration of reserpine and were impressed not only by the marked loosening of the skin but also by the striking effect on the Raynauds phenornena; the latter disappeared within a few weeks of treatment.
CREST Syndrome* ; Deglutition ; Elbow ; Female ; Forearm ; Hand ; Humans ; Knee Joint ; Middle Aged ; Neck ; Reserpine* ; Skin ; Strikes, Employee ; Telangiectasis

BACKGROUND: The CREST syndrome is an indolent form of progressive systemic sclerosis. Although its clinical progress is indolent, pulmonary hypertension(PH) associated with CREST syndrome have grave prognosis with over 40 percent mortality rate at 2 year follow-up. But the pathogenesis of pulmonary hypertension in this disease is not known, and classified as either primary or secondary PH. Clonality of endothelial cell proliferation in plexiform lesion is a molecular marker which allows distinction between primary and secondary PH. We performed this study to know whether the PH associated with CREST syndrome is a variant of primary PH or is a secondary PH. METHODS: We assessed the X-chromosome inactivation based on the methylation pattern of the human androgen-receptor gene by PCR(HUMARA). Endothelial cells in plexiform lesions from female patients(n=3) with PH associated with CREST syndrome were microdissected from paraffin blocks. Vascular smooth muscle cells and lung parenchyma were also microdissected for clonality studies. RESULTS: The proliferating endothelial cells in 14 plexiform lesions were all polyclonal. Similarly proliferated smooth muscle cells from 5 vessels with medial hypertrophy were also polyclonal. CONCLUSION: These results suggest that the pulmonary hypertension associated with CREST syndrome has different pathogenesis from primary PH and to be classified as secondary PH.
CREST Syndrome* ; Endothelial Cells* ; Female ; Follow-Up Studies ; Humans ; Hydrogen-Ion Concentration ; Hypertension, Pulmonary* ; Hypertrophy ; Lung ; Methylation ; Mortality ; Muscle, Smooth, Vascular ; Myocytes, Smooth Muscle ; Paraffin ; Prognosis ; Scleroderma, Diffuse