elastin and Hepatolenticular-Degeneration

Copper is an indispensable trace element for life. Four points are fundamental: copper is combined with essential enzymatic systems (oxidases, transaminases), copper is necessary for inclusion of iron in the molecule of hemoglobin, copper has a primordial role in the metabolism of molecule of hemoglobin, copper has a primordial role in the metabolism of collagen and elastin and some vascular diseases (aneurysms) are closely related to its lack, finally, there is an increase of plasmatic copper during cancerous diseases, which is significant even at an early time and usually proportional to the evolution.

Topics: Anemia, Hypochromic; Animals; Collagen; Copper; Elastin; Hepatolenticular Degeneration; Humans; Menkes Kinky Hair Syndrome; Mice; Neoplasms; Rabbits; Zinc

Topics: Animals; Cells, Cultured; Ceruloplasmin; Collagen; Copper; Cutis Laxa; Ehlers-Danlos Syndrome; Elastin; Hepatolenticular Degeneration; Humans; Liver; Menkes Kinky Hair Syndrome; Mice; Protein-Lysine 6-Oxidase

Topics: Age Factors; Bread; Candy; Chewing Gum; Condiments; Copper; Dairy Products; Edible Grain; Elastin; Fish Products; Flour; Food Analysis; Fruit; Hepatolenticular Degeneration; Honey; Humans; Meat; Nutrition Surveys; Nutritional Requirements; Poultry Products; Switzerland; Trace Elements; Vegetables

The term penicillamine dermatopathy refers to the characteristic hemorrhagic skin lesions found in persons receiving long-term penicillamine therapy for either Wilson's disease or cystinuria. These lesions are thought to develop as a result of faulty collagen and elastin synthesis. We describe a patient with Wilson's disease who developed extensive penicillamine dermatopathy. In addition, histologic, immunochemical, and ultrastructural studies revealed multiple lymphangiectases with blood vessel to lymphatic anastomosis within these lesions, a finding not previously reported. The possible relationship to defective collagen and elastin formation are considered.

Topics: Adult; Biopsy; Collagen; Connective Tissue; Elastin; Hepatolenticular Degeneration; Humans; Immunoenzyme Techniques; Lymphangiectasis; Male; Microscopy, Electron; Penicillamine; Skin; Skin Diseases

Wilson's disease is characterized by accumulation of copper and D-penicillamine favors its elimination. However, penicillamine binds to precursors of intermolecular crosslinks both in collagen and elastin, and could lead to alterations of these two fibrous proteins. In the present report skin biopsies from patients with Wilson's disease, treated with 900 mg/day of D-penicillamine, for 5, 9, 58 and 60 months, were studied by electron microscopy and compared with findings obtained from skin biopsies of age-matched normal subjects. Clinically, the elasticity and consistency of the skin of Wilson's patients was not modified by D-penicillamine treatment. The ultrastructural organization of collagen fibrils appeared normal in the adults treated with D-penicillamine for 5-9 months. In a 15-year-old girl, treated for 48 months, a high number of collagen fibrils were swollen and unreeved. Elastin fibers were altered in all patients. The alterations were mostly pronounced in the reticular dermis, were proportional to the time of treatment, and consisted of polymorphous aggregates of elastin connected to apparently normal elastin fibers. A stereological analysis, on EM pictures from the patient treated for 60 months, and from an age-matched control, showed a significant decrease in the percentage of collagen and of the mean area occupied by each collagen bundle in the reticular dermis of the patient compared to control; on the contrary, the number of elastin fibers per unit area increased significantly, and the mean area of each elastin fiber decreased. The volume density of elastin was similar to control. The results indicate that prolonged administration of penicillamine to humans induces alterations in the deposition of dermal collagen and elastin.

Topics: Adolescent; Adult; Aged; Biopsy; Collagen; Elastin; Female; Glycosaminoglycans; Hepatolenticular Degeneration; Humans; Male; Microscopy, Electron; Penicillamine; Reference Values; Skin