Pseudoxanthoma Elasticum (Gr??blad-Strandberg Syndrome)

Angioid streaks and elastorrhexis.

“…Angioid streaks are considered to be a direct result of lines of force within the eye (Terry, 1934;Hagedoorn, 1939;Goodman and others, 1963). This is in keeping with the associated incidence of ocular trauma (Doyne, 1889;Scholz, 1941;Bedell, 1961;Gills and Paton, 1965 (Berlyne, 1960;Smith, Malak, Goodman, and McKusick, 1962); telangiectasis may be present towards the edge of the lesions (Hannay, 1951;Loria, Kennedy, Freeman, and Henington, 1957). There is no evidence of lipid infiltration.…”

“…Giant cells and macrophages have been noted in the involved areas, and may give the appearance of a foreign-body reaction (Berlyne, 1960;Smith, Malak, Goodman, and McKusick, 1962); telangiectasis may be present towards the edge of the lesions (Hannay, 1951;Loria, Kennedy, Freeman, and Henington, 1957). There is no evidence of lipid infiltration.…”

Pseudoxanthoma elasticum

“…Premature atherosclerosis in this disorder is due to elastic tissue fragmentation and degeneration in the media of the arteries leading to secondary deposition of calcification. Virtually every organ in the body can be affected (Loria et al, 1957;Carlborg et al, 1959;McKusick, 1956-60). Of about 200 cases reviewed by Eddy & Farber (1962), 18% had intermittent claudication, 25% had diminished or absent peripheral pulses (Carlborg, 1944), 19% had angina, and 14% had calcification of peripheral vessels on X-rays.…”

“…Darier's concept (1896) that the fault lies in the elastic tissue was recently challenged by Hannay (1951), Tunbridge et al (1952) and McKusick (1960 who argued that the basic defect is in the abnormal collagen fibres which take on histochemical features simulating that of elastic tissue. The original 'elastic' theory however had many supporters, and recently with improved techniques and modern equipments such as electronic microscopy, microincineration, elastase digestion and purification methods (Loria et al, 1957;Moran & Lansing, 1958;Smith, Sams & Davidson, 1962) it has been established that the primary site of the abnormality in PXE is the elastic tissue.…”

Biosynthesis of collagen in pseudoxanthoma elasticum

“…The problem as to whether the basic defect in PXE i� in elastic or in collagen fibres has becn debated over many years (16). Elcctron microscopic studies showed changes in true clastic fibres, particularly as dcposits of calcium salts inside the fibres (5,Il ,12,15,17). The calcifica tion has been reported as the first visible abnor mality in PXE (5,6,10,11).…”