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

PURPOSE: To report a case of Type 2 Waardenburg syndrome with anisocoria. CASE SUMMARY: A 53-year-old woman with congenital deafness visited the clinic complaining of photophobia and heterochromic iris in the left eye. Her best-corrected visual acuity was 1.0 in the right eye and 0.7 in the left eye. The patient's left eye showed complete iris hypopigmentation, and the right eye showed segmental iris hypopigmentation. Fundus examination demonstrated generalized decrease in retinal pigment with focal hypopigmented lesions in both eyes. The pupil sizes were 3 mm in the right eye and 5 mm in the left eye. A pure tone audiogram showed profound bilateral sensorineural hearing loss. CONCLUSIONS: In the present case, mydriasis was found to exist in a completely hypopigmented iris. Therefore, the neural crest from which the pupillary constrictor muscle originates may play a role in the pathogenesis of Waardenburg syndrome.
Anisocoria ; Deafness ; Eye ; Female ; Hearing Loss, Sensorineural ; Humans ; Hypopigmentation ; Iris ; Middle Aged ; Muscles ; Mydriasis ; Neural Crest ; Photophobia ; Pupil ; Retinaldehyde ; Visual Acuity ; Waardenburg Syndrome

Primary biliary cirrhosis is a chronic progressive disease most often affecting women. It is characterized by the progressive destruction of the small intrahepatic bile ducts with portal inflammation leading to hepatic fibrosis and cirrhosis. Autoimmune diseases such as Sjogren's syndrome, rheumatoid arthritis, dermatomyositis, CREST syndrome, and autoimmune thyroiditis may be found in up to 80% of the patients. Primary biliary cirrhosis is also associated with renal diseases such as distal renal tubular acidosis, bacteriuria and glomerulopathy, but there is no case report of primary biliary cirhosis with renal manifestations in Korea. We are reporting a case of primary biliary cirrhosis with multiple renal abscess and IgA nephropathy with a review of the literature.
Abscess* ; Acidosis, Renal Tubular ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Bacteriuria ; Bile Ducts, Intrahepatic ; CREST Syndrome ; Dermatomyositis ; Female ; Fibrosis ; Glomerulonephritis, IGA* ; Humans ; Immunoglobulin A* ; Inflammation ; Korea ; Liver Cirrhosis, Biliary* ; Sjogren's Syndrome ; Thyroiditis, Autoimmune

DiGeorge syndrome is the developmental anomalies of the third and fourth pharngeal pouches. Recently, damages or abnormal development of the neural crest is suggested as a possible pathogenetic factor, because neural crest cells play a crucial role in development of pharyngeal pouch derivatives, e.g. thymus and parathyroid glands, as well as the aortic arches and conotruncal part of the heat. Most cases have abnormal findings of chromosome 22 and are sporadic, but familial cases have been described. Typical features of DiGeorge syndrome are congenital heart disease, aplasia or hypoplasia of the thymus and parathyroid glands and facial dysmorphism. The main problems and cause of death are severe congestive heart failure due to cardiac anomlies, hypocalcemic complications or immunocompromised conditions. As these results, most cases were expired at infantal period or early childhood. Recently, we have a case of Digeorge syndrome which was associated with complex cardiovascular anomalies(tetralogy of Fallot, atrial septal defect, right aortic arch, left hemitruncus), severe hypocalcemia, aplasia of thymus and facial dysmorphism.
Aorta, Thoracic ; Cause of Death ; Chromosomes, Human, Pair 22 ; DiGeorge Syndrome* ; Heart Defects, Congenital ; Heart Failure ; Heart Septal Defects, Atrial ; Hot Temperature ; Humans ; Hypocalcemia ; Infant ; Neural Crest ; Parathyroid Glands ; Thymus Gland