elastin and Collagen-Diseases

Topics: Aged; Bronchiectasis; Collagen Diseases; Dermis; Dermoscopy; Diagnosis, Differential; Elastin; Female; Humans; Pseudoxanthoma Elasticum

The recent progress made in understanding the normal biology and biochemistry of the extracellular matrix of human skin has allowed us to identify several different levels at which errors could be introduced into the structure and metabolism of collagen or elastin, the two major fibrillar components of the dermis. Currently, several heritable cutaneous diseases are known to display distinct collagen or elastin abnormalities. This article reviews some of the heritable cutaneous diseases and highlights those entities in which definite information on molecular alterations in collagen or elastin is available.

Topics: Adult; Collagen; Collagen Diseases; Cutis Laxa; Ehlers-Danlos Syndrome; Elastin; Fibroma; Humans; Male; Osteopoikilosis; Osteosclerosis; Pedigree; Skin Diseases; Skin Neoplasms

This article reviews the diseases that may show epidermal perforation as a histologic feature. Many of these represent examples of transepithelial elimination (TEE), a mechanism by which the skin rids itself of abnormal substances. After a review of disorders in which perforation is an occasional finding, four diseases that have been considered essential perforating disorders are discussed: elastosis perforans serpiginosa (EPS), reactive perforating collagenosis (RPC), perforating folliculitis (PF), and Kyrle 's disease (KD). A review of the literature, including recent reports of perforating diseases associated with chronic renal failure, suggests that there may be considerable clinical and histologic overlap among PF, KD, and the adult form of "perforating collagenosis." A working classification for the perforating disorders is suggested.

Topics: Collagen Diseases; Elastic Tissue; Elastin; Folliculitis; Granuloma; Humans; Keratosis; Kidney Failure, Chronic; Microscopy, Electron; Pseudoxanthoma Elasticum; Skin; Skin Diseases

Topics: Animals; Arteries; Arteriosclerosis; Calcium; Collagen Diseases; Cricetinae; Elastic Tissue; Elastin; Humans; Lipid Metabolism; Lung; Microscopy, Electron; Models, Chemical; Molecular Conformation; Pancreatic Elastase; Pseudoxanthoma Elasticum; Pulmonary Emphysema; Skin Diseases; Tropoelastin

The elastic fibers present in various connective tissues of the body are responsible for physiologic elasticity of the organs. These fibers consist of 2 distinct components, elastin and the elastic fiber microfibrils. Controlled synthesis and balanced interaction of these 2 components are essential for normal fibrillogenesis. The intracellular biosynthesis of elastin by connective tissue cells, such as smooth muscle cells, involves assembly of the polypeptide chains on the membrane-bound ribosomes, hydroxylation of some prolyl residues to hydroxyproline, and secretion of the polypeptides packaged in Golgi vacuoles. In the extracellular space the elastin molecules assemble into fiber structures which are stabilized by the synthesis of complex covalent cross-links, desmosines. Recently, aberrations in the structure or metabolism of elastin have been detected in a variety of heritable and acquired diseases affecting skin and other connective tissues. These conditions include pseudoxanthoma elasticum, cutis laxa, and elastosis perforans serpiginosa, as well as arteriosclerosis and other degenerative changes of the vascular connective tissues.

Topics: Amino Acids; Arteriosclerosis; Chemical Phenomena; Chemistry; Collagen Diseases; Connective Tissue; Contractile Proteins; Cutis Laxa; Desmosine; Ehlers-Danlos Syndrome; Elastic Tissue; Elastin; Female; Glycoproteins; Humans; Hydroxyproline; Marfan Syndrome; Menkes Kinky Hair Syndrome; Muscle Proteins; Pancreatic Elastase; Peptide Biosynthesis; Protein Precursors; Pseudoxanthoma Elasticum; X Chromosome

Topics: Collagen; Collagen Diseases; Connective Tissue; Elastin; Humans; Lathyrism

Topics: Animals; Antigens; Autoantibodies; Autoimmune Diseases; Collagen; Collagen Diseases; Elastin; Gelatin; Humans; Isoantibodies; Peptides; Reticulin; Species Specificity

Topics: Aging; Collagen; Collagen Diseases; Connective Tissue; Elastin; Protein Denaturation

Topics: Aging; Amino Acids; Animals; Aortic Rupture; Cartilage, Articular; Collagen; Collagen Diseases; Disease Models, Animal; Disease Progression; Elastin; Enzyme-Linked Immunosorbent Assay; Female; Femur; Male; Mice; Mice, Inbred C57BL; Osteoarthritis; Protein-Lysine 6-Oxidase; Stifle; Tibia

Topics: Animals; Chromosome Mapping; Collagen; Collagen Diseases; Disease Models, Animal; Elastin; Genes; Humans; Mice; Phenotype; Research Design; United States

Cardiomyopathy was produced by isoprenaline injections to healthy and hydrazinophthalazine-treated rats. The elastin content in the heart muscle and the aortic wall as well as the level of serum elastolytic activity were determined. An increase of elastin content in both tissues was found, and its progress was concomitant with the development of isoprenaline injury. It was also found that the elastolytic activity increased on the second day after the last isoprenaline injection, and on the seventh day of the experiment it began to decrease. Changes in hydrazinophthalazine-treated rats after dosing them with isoprenaline had a similar tendency but they were significantly lower than those found in healthy animals receiving isoprenaline only.

Topics: Animals; Cardiomyopathies; Collagen Diseases; Elastin; Hydralazine; Isoproterenol; Male; Pancreatic Elastase; Rats; Rats, Inbred Strains

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.

Topics: Basement Membrane; Child; Child, Preschool; Collagen; Collagen Diseases; Elastin; Epidermis; Fluorescent Antibody Technique; Histocytochemistry; Humans; Immunoenzyme Techniques; Keratins; Laminin; Male; Microscopy, Electron; Skin Diseases

Topics: Collagen; Collagen Diseases; Connective Tissue Diseases; Elastic Tissue; Elastin; Humans; Keloid; Microbial Collagenase; Neoplasm Invasiveness; Proteoglycans; Wound Healing

We report a patient who has congenital cutis laxa and exocrine pancreatic insufficiency. Collagen analysis has provided evidence for defective elastin cross linking, possibly related to a mild copper deficiency. Connective tissue anomalies, in the presence of poor growth and/or symptoms of malabsorption should alert the physician to investigate pancreatic function. Adequate replacement of pancreatic enzymes will result in normal growth and development.

Topics: Adolescent; Collagen Diseases; Copper; Cutis Laxa; Elastin; Exocrine Pancreatic Insufficiency; Humans; Male

Topics: Animals; Chemical Phenomena; Chemistry; Collagen; Collagen Diseases; Elastin; Humans; Hydralazine; Isoniazid; Ligands; Penicillamine; Phenytoin; Procainamide; Protein-Lysine 6-Oxidase

Topics: Aging; Animals; Collagen; Collagen Diseases; Elastin; Forelimb; Horse Diseases; Horses; Ligaments, Articular; Tendons

Topics: Animals; Collagen; Collagen Diseases; Connective Tissue; Elastic Tissue; Elastin; Humans; Tropoelastin

Topics: Arteritis; Cell Migration Inhibition; Collagen Diseases; Elastin; Giant Cell Arteritis; Humans; Immunity, Cellular; Leukocytes; Polyarteritis Nodosa; Scleroderma, Systemic; Takayasu Arteritis; Vascular Diseases

The cells of the connective tissues contain lysosomes with enzymes capable of degrading intercellular substances (collagen, elastin, proteoglycans) and release their enzymes in membrane-bound or in free form into their intercellular substance. In this way extracellularly located lysosomes (= matrix lysosomes) can be detected by morphological and enzymatic means as well as by their metal concentrating property. This function of such matrix-lysosomes is in connection with the two step-degradation of the connective tissue and is thought to be the main part for the fibrocytic fibrolysis, chondrocytic chondrolysis, osteocytic osteolysis and myocytic mediolyses in the vessel wall. The cells of the mesenchymal tissues thus control the turnover and transformation of their own ground substance. Inflammatory and immunologic processes are suggested to be superimposed on this lysosomal action. If the lysosomal enzyme system in the connective tissues and the vessel wall gets out of control, the consequences can be dangerous as e.g. in case of relapsing polychondritis and arterial aneurysms. In this enzyme system proteolytic activators as well as proteolytic decomposable inhibitors are present. The corresponding proteolytic processes are of lysosomal nature and are subordinated to other regulatory mechanisms.

Topics: Aneurysm; Animals; Arthritis, Rheumatoid; Collagen Diseases; Connective Tissue; Elastin; Female; Humans; Lysosomes; Male; Microscopy, Electron; Middle Aged; Polychondritis, Relapsing; Proteoglycans; Rats; Vascular Diseases

Topics: Amino Acid Sequence; Arteriosclerosis; Collagen Diseases; Connective Tissue; Connective Tissue Cells; Elastin; Glycoproteins; Humans

Topics: Animals; Arteriosclerosis; Collagen Diseases; Cutis Laxa; Elastin; Humans; Lathyrism; Models, Chemical; Rabbits; Rats; Structure-Activity Relationship

Topics: Collagen; Collagen Diseases; Connective Tissue; Culture Techniques; Elastic Tissue; Elastin; Fibroblasts; Humans; Marfan Syndrome; Microscopy, Electron; Penicillamine; Scleroderma, Systemic; Skin Manifestations; Vitamin K

Topics: Carbohydrate Metabolism; Collagen; Collagen Diseases; Elastin; Glycosaminoglycans; Humans; Proteins; Reticulin

Topics: Acetaldehyde; Amino Acid Oxidoreductases; Aminopropionitrile; Animals; Carbon Isotopes; Collagen; Collagen Diseases; Cyanides; Elastin; Lathyrism; Lysine; Metabolism, Inborn Errors; Protein Binding; Protein Denaturation; Rats

Topics: Aorta; Collagen Diseases; Ectodermal Dysplasia; Elastin; Female; Glycosaminoglycans; Hearing Disorders; Humans; Male; Osteitis Deformans; Osteitis Fibrosa Cystica; Osteogenesis Imperfecta; Otosclerosis; Racial Groups

Topics: Animals; Collagen Diseases; Copper; Deficiency Diseases; Elastin; Lysine

Topics: Amyloid; Animals; Carbohydrates; Cherubism; Child, Preschool; Collagen; Collagen Diseases; Elastin; Female; Glycosaminoglycans; Histocytochemistry; Humans; Jaw Diseases; Male; Proteins; Reticulum; Vascular Diseases

Topics: Animals; Collagen; Collagen Diseases; Connective Tissue; Elastin; Glycosaminoglycans; Histocytochemistry; Humans

Topics: Blood Vessels; Capillary Permeability; Collagen; Collagen Diseases; Connective Tissue; Elastin; Microscopy, Electron; Staining and Labeling

Topics: Collagen; Collagen Diseases; Connective Tissue; Elastic Tissue; Elastin; Gastroenterology; Gastrointestinal Tract; Glycoproteins; Glycosaminoglycans; Histocytochemistry; Humans; Inflammation; Mucoproteins; Nasal Mucosa; Pathology; Respiratory Mucosa; Respiratory Tract Diseases