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Copyright V. Ventruto / A. Di Luccio Genus database 21840 pseudoxanthoma elasticum, autosomal dominant type I Eponyms: Inheritance: angioid streaks with skin changes elastosis dystrophica Gronblad-Strandberg syndrome PXE autosomal dominant autosomal recessive genetic heterogeneity X-linked recessive Semeiological Cardio-cutaneous-ocular disorder. Diffusa yellowish nodules xanthomas-like, changes in the skin of the flexural areas, ocular involvement, arterious rupture, thrombosis, intestinal occlusion, calcified falx cerebri. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects coronary disease, myocardial infarction, angina mitral valve, prolapse peripheral vessels changes arterial occlusion, including: peripheral sclerosis, atherosclerosis, arterial fibromuscular dysplasia hypertension thromboembolia, thrombosis, including thombophilia DERMATOLOGICAL DISORDERS cutis, changes in appearance and/or features cutis, hyperelastic cutis, redundant, loose, including cutis laxa isolated dermatological disorders cutis, nodules cutis, nodules; skin polyps; warty, verrucous lesions xantoma cutis dermatitis pruritus, itching pigmentation changes cutis, yellow, orange color GASTROINTESTINAL DISORDERS intestinal dysfunctions intestinal perforation, intestinal hemorrhagy HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS coagulation disorders, including platelet changes hemorrhage, ecchymoses, bleeding diathesis, purpura JOINT DISORDERS joint, laxity, dislocations joint, laxity, hyperlaxity, hypermobility LABORATORY DATA chromosomal assignment chromosome 16p localization fibroblasts, changes metachromasia gene, structural-functional anomalies ABCC6 (ARA) (ABC34) (MLP1) (PXE), gene chr.16p13.1 gene analysis-DNA analysis plasma electrolytes-inorganic constituents, modified functions pseudoxanthoma elasticum, autosomal dominant type I Page 1 of 3 Copyright V. Ventruto / A. Di Luccio Genus database iron overload, hemosiderosis, including hemochromatosis tissue, biochemical changes collagen biosynthesis/structure disorders collagen disorders, not including Ehlers Danlos and osteogenesis imperfecta NEUROLOGICAL DISORDERS brain anomalies brain: hemorrhage, including ischemia, strokes intracranial calcification (calcinosis) including: basal ganglia, falx cerebri calcification OCULAR DISORDERS choroidoretinal defects choroidoretinal dystrophy macular degeneration, including macular dystrophy retinal aplasia retinal dystrophy widespread, including: cone dystrophy, cone-rod dystrophy retinal nodules, retinal phakomas, including retinoma, retinocytoma retinal vascular anomalies, retinal hemorrhages, angioid streaks corneal defects not including dystrophy keratoconus optical nerve defects drusen, hyaline bodies, yellow-white retinal deposits in the retinal epithelium sclera, changes sclerae blue visus defects myopia OTHERS inheritance inheritance, autosomal dominant inheritance, autosomal recessive inheritance, genetic heterogeneity inheritance, X-linked recessive supergroups cardio-cutaneous-oculo disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic Super group: cardio-cutaneous-ocular disorders Super aggreg. COLLAGEN, BIOSYNTHESIS/STRUCTURE DISORDERS collagen disorders, not including Ehlers Danlos and osteogenesis imperfecta Aggregations: FOETAL CHANGES foetal changes, recognized by ultrasound techniques OTHER isolated dermatological disorders Differential diagnosis: 2150 4060 130 14990 28538 arterial calcification of infancy calcinosis tumoural epidermolysis bullosa, acquaired lipoproteinosis pseudoxanthoma elasticum, autosomal recessive type I and II 27050 xanthomatosis cerebrotendinous pseudoxanthoma elasticum, autosomal dominant type I Page 2 of 3 Copyright V. Ventruto / A. Di Luccio Genus database Bibliography OMIM ID: 177850 OMIM ID: 603234 Baraitser-Winter: Congenital Malformation Syndromes Mosby&Wolfe Ed. 1996, pag.207-208 J.L.Spitz: Genodermatoses. Lippincott William Wilkins Ed. 2006 Annuario Orphanet-Italia delle Malattie Rare, 2005 pag. 692 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.28302836,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.36583662,2007 pseudoxanthoma elasticum, autosomal dominant type I Page 3 of 3
