Abstract
Pseudoxanthoma elasticum (PXE) is a disorder of connective tissue in which abnormalities of elastic tissue and collagen are found. The purpose of this study was to examine the ultrastructure and distribution of connective tissue components in lesional and non-lesional skin of patients by means of indirect immunofluorescence, electron microscopy and indirect immunoelectron microscopy. Prominent abnormalities of elastic tissue were seen on electron microscopy and confirmed by immunoelectron microscopy. Abnormal elastic fibers containing electron-dense bodies and holes were seen even in non-lesional skin. In addition, the normal pattern of collagen bundles was disrupted in lesional skin, but not in non-lesional skin of patients with PXE. The majority of individual collagen fibrils appeared normal by electron microscopy. The distribution of type IV collagen and laminin was normal in small blood vessels. Finally, abnormalities in the distribution of fibronectin were seen. The finding of atypical elastic fibers in non-lesional skin supports an early role for elastic tissue components in the pathogenesis of PXE. Interactions between elastin, collagen and other matrix substances may explain some of the abnormalities seen.
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Akhtar M, Brody H (1975) Elastic tissue in pseudoxanthoma elasticum: ultrastructural study of endocardial lesions. Arch Pathol 99: 667–671
Blumcke S, Lagness U, Leisegang B, Fooke-Achterrath M, Thiel HJ (1974) Light and electron microscopic and element analysis of pseudoxanthoma elasticum (Darier-Gronblad-Strandberg Syndrome). Beitr Pathol 152: 179–199
Cunningham JR, Lippman SM, Renie WA, Francomano CA, Maumenee IH, Pyeritz RE (1980) Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance. John Hopkins Med J 147: 168–173
Danielsen L (1979) Morphological changes in pseudoxanthoma elasticum and senile skin. Acta Derm. Venereol (Stockh) Suppl 83: 1–79
Dessau W, Sasse J, Timpl R, Jilek F, Mark K von der (1978) Synthesis and extracellular deposition of fibronectin in chondrocyte cultures. Response to the removal of extracellular cartilage matrix. J cell Biol 79: 342–355
Fleischmajer R, Timpl R (1984) Ultrastructural localization of fibronectin to different anatomic structures of human skin. J Histochem Cytochem 32: 315–321
Fleischmajer R, Olsen BR, Timpl R, Perlish J, Lovelace O (1983) Collagen fibril formation during embryogenesis. Proc Natl Acad Sci USA 80: 3354–3358
Fleischmajer R, MacDonald ED II, Perlish JS, Burgeson RE, Fisher LW (1990) Dermal collagen fibrils are hybrids of type I and type III collagen molecules. J Struct Biol 105: 162–169
Lebwohl MG, DiStefano D, Prioleau PG, Uram M, Yannuzzi LA, Fleischmajer R (1982) Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J med 307: 228–231
Nowack H, Gay S, Wick G, Becker U, Timpl R (1976) Preparation and use in immunohistology of antibodies specific for type I and type III collagen and procollagen. J Immunol Methods 12: 117–124
Pasquali-Ronchetti I, Volpin D, Baccarani-Contri M, Castellani I, Peserico A (1981) Pseudoxanthoma elasticum. Biochemical and ultrastructural studies. Dermatologica 163: 307–325
Ross R, Fialkow PJ, Altman LK (1978) Fine structure alterations of elastic fibers in pseudoxanthoma elasticum. Clin Genet 13: 213–223
Schachner L, Young D (1974) Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child 127: 571–575
Teller H, Vester G (1957) Elektronenmikroskopische Untersuchungsergebnisse an der kollagenen Intercellularsubstanz des Koriums beimPseudoxanthoma elasticum. Dermatol Wochenschr 36: 1373
Timpl R, Rohde H, Robey PG, Rennard SI, Foidart JM, Martin GR (1979) Laminin — a glycoprotein from basement membranes. J Biol Chem 254: 9933–9937
Schwartz E, Goldfischer S, Coltoff-Schiller B, Blumenfeld OO (1985) Extracellular matrix microfibrils are composed of core proteins coated with fibronectin. J Histochem Cytochem 33: 268–274
Yamamura T, Sano S (1984) Ultrastructural and histochemical analysis of thready material in pseudoxanthoma elasticum. J Cutan Pathol 11: 282–291
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Lebwohl, M., Schwartz, E., Lemlich, G. et al. Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum. Arch Dermatol Res 285, 121–126 (1993). https://doi.org/10.1007/BF01112912
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DOI: https://doi.org/10.1007/BF01112912