1/15. Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The authors report on a boy with Ullrich disease who has complete deficiency of collagen VI and harbors compound heterozygous mutations in the collagen VI alpha 2 gene. Absence of microfibrils on EM, together with normal collagen fibrils and basal lamina, suggests that loss of a link between interstitium and basal lamina may be a new molecular pathomechanism of muscular dystrophy.- - - - - - - - - - ranking = 1keywords = lamina (Clic here for more details about this article) |
2/15. BP180 ELISA using bacterial recombinant NC16a protein as a diagnostic and monitoring tool for bullous pemphigoid.Bullous pemphigoid (BP) is an acquired autoimmune subepidermal blistering disease against hemidesmosomal cytoplasmic BP230 and transmembrane BP180 proteins. epitope mapping studies have shown that the membrane-proximal noncollagenous (NC) 16a domain of BP180 harbors clusters of antigenic sites recognized by the vast majority of BP sera. In this study, we developed an enzyme-linked immunosorbent assay (ELISA) using bacterial recombinant NC16a protein and evaluated its clinical benefit for diagnosis and monitoring disease activity. Fifty four (84.4%) of 64 sera from BP patients were positive, while only one (1.1%) of 91 sera from collagen disease patients and five (1.5%) of 336 sera from normal control barely exceeded the cut-off value. None of 69 pemphigus vulgaris sera and none of 42 pemphigus foliaceus sera exceeded the cut-off value. Thus, the sensitivity and specificity of NC16a ELISA were 84.4 and 98.9%, respectively. The correlation between ELISA scores and disease activity along the time course was examined using seven BP patients. NC16a ELISA scores tended to fluctuate in parallel with the disease activity along the time course and reflected the disease activity much better than indirect immunofluorescence. These findings indicate that NC16a ELISA will be a valuable tool not only for the diagnosis of patients with BP but also for the monitoring of the disease activity.- - - - - - - - - - ranking = 0.092096663046157keywords = membrane (Clic here for more details about this article) |
3/15. Immune-complex glomerulonephritis in a patient with mixed connective tissue disease.Renal involvement and hypocomplementemia in mixed connective tissue disease are reported to be rare. A patient is described here with mixed connective tissue disease and persistently low serum C'3 levels in whom renal insufficiency and nephrotic syndrome developed secondary to immune-complex glomerulonephritis. light microscopy of the renal biopsy specimen showed predominantly a membranous lesion. Immunofluorescent staining showed granular deposition along the basement membrane of immunoglobulin g, immunoglobulin m, fibrinogen and C3. Electron microscopy showed numerous electron-dense deposits along the glomerular capillary membrane and in the mesangium.- - - - - - - - - - ranking = 0.092096663046157keywords = membrane (Clic here for more details about this article) |
4/15. Intramembranous fine deposit disease associated with collagen disorders: a new morphological entity?A distinct, hitherto unknown renal histopathological appearance, consisting of diffuse thickening of the glomerular basement membrane (GBM) with fine intramembranous electron-dense deposits, was observed in the renal biopsies from three patients with collagen diseases. In each case, proteinuria was mild with normal urinary sediment. On light microscopy there were no particular abnormalities but a mild thickening of the glomerular capillary wall. Immunofluorescence studies revealed faint linear or extremely fine granular IgG deposition along the capillary wall. On electron microscopy, the GBM was diffusely thickened with fine intramembranous electron-dense deposits without spike formation. No other deposits were seen in the glomerulus. These histological features resembled those of membranous glomerulonephritis (MGN), although the possibility of the early change of MGN is excluded by specific findings in these cases. Other GBM-thickening diseases such as diabetic glomerulosclerosis were ruled out clinically and histologically. Our cases have a singular renal histopathology which differs from any of the previously established classifications of glomerular lesions. It may be a specific change associated with some type of collagen disease.- - - - - - - - - - ranking = 0.046048331523078keywords = membrane (Clic here for more details about this article) |
5/15. Infantile systemic hyalinosis: newly recognized disorder of collagen?Four infants with stiff skin and painful joint contractures in the first few months of life are described. Other features included small papules, particularly on the face and trunk, perianal nodules, hyperpigmentation over the metacarpophalangeal joints and over the malleoli, gingival hyperplasia, persistent diarrhea, and failure to thrive. Two of these infants died before the age of 18 months. In each case hyaline material was found in the papillary dermis. Ultrastructurally, there was a distinctive fibrillogranular appearance in which a banding pattern could be observed. This material was also found within membrane-bound vacuoles in macrophages and fibroblasts. It had an appearance and localization identical with that of collagen type vi. These features are similar to those reported in juvenile hyaline fibromatosis. It is believed that these infants have a closely related, but nonetheless distinctive, inherited disorder of collagen.- - - - - - - - - - ranking = 0.046048331523078keywords = membrane (Clic here for more details about this article) |
6/15. Reactive perforating collagenosis: light, ultrastructural and immunohistological studies.Reactive perforating collagenosis is an uncommon disorder and few accounts refer to ultrastructural features. This report includes a study by light and transmission electron microscopy of serially sectioned biopsies from early lesions in two patients. Immunohistological investigations utilizing antibodies to basement membrane, laminin, collagen and cytokeratin were also done. Collagen and elastin were demonstrated within the centre of the lesions and there was a defect in the basal lamina at the base of the lesion. The collagen, cytokeratin and the basal lamina in the lesions were antigenically similar to those in the surrounding normal skin. These results are compared with previous findings and discussed in the light of the current views on the pathogenesis of this disorder.- - - - - - - - - - ranking = 1.0460483315231keywords = lamina, membrane (Clic here for more details about this article) |
7/15. adult, acquired reactive perforating collagenosis. Report of a case including ultrastructural findings.A case of reactive perforating collagenosis in an adult male patient with chronic renal failure. Pruritic, umbilicate papules, showing extrusion of collagen fibers through the epidermis were detected histopathologically. Electron microscopy showed absence of basal membrane beneath the perforation and collagen fibers with preserved periodicity passing through widened intercellular spaces with islands of cytoplasmic material.- - - - - - - - - - ranking = 0.046048331523078keywords = membrane (Clic here for more details about this article) |
8/15. Childhood-type myositis and linear scleroderma.A 5-year-old girl had linear scleroderma on the flexor surface of the right arm; muscle wasting included the shoulder girdle. IgM fluorescence on blood vessels and along dermal-epidermal junction was observed by direct immunofluorescence in biopsied skin. Biceps muscle underlying the plaque of the scleroderma showed atrophy of entire fascicles, perifascicular atrophy, and cellular infiltration around blood vessels that are quite similar to those found in childhood-type dermatomyositis. In addition, various abnormalities, including edema and thickening of basal lamina, were found on blood vessels in muscle tissue. The results suggested that the autoimmune collagen vascular disorder is responsible for this condition.- - - - - - - - - - ranking = 0.5keywords = lamina (Clic here for more details about this article) |
9/15. Collagenous colitis: an unrecognised entity.A patient is reported with chronic abdominal pain, diarrhoea, and associated radiological and endoscopic abnormalities of the sigmoid colon. light and electron microscopic study of colorectal mucosa showed abnormal collagenous thickening of the subepithelial basement membrane. The authors felt that the clinical and morphological features justified a diagnosis of collagenous colitis. review of the literature suggested that collagenous colitis was still an unrecognised entity.- - - - - - - - - - ranking = 0.046048331523078keywords = membrane (Clic here for more details about this article) |
10/15. Collagenous colitis.Collagenous colitis is characterized clinically by chronic watery diarrhea and pathologically by colonic mucosal subepithelial collagen deposition. We report a 72-year-old woman who had collagenous colitis associated with chronic watery diarrhea. She received a non-steroidal anti-inflammatory agent (sulindac) because of rheumatoid arthritis. Histological examination of biopsy showed a thick subepithelial collagen layer with lymphocytes, plasma cells, and infiltration of a few eosinocytes in the lamina propria. These findings led to the diagnosis of collagenous colitis. After treatment with salazosulfapyridine, her bowel movement became normalized and mucosal subepithelial collagen deposition disappeared.- - - - - - - - - - ranking = 0.5keywords = lamina (Clic here for more details about this article) |
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