Abstract • Osteogenesis imperfecta (01) and Paget's disease of bone occurred in a patient whose brother has Paget's disease. Several other relatives have the dominant variety of 01. The familial occurrence of the two diseases is presumably due to chance and, to our knowledge, has not been previously reported. Examination of iliac crest bone biopsy specimens showed mild changes of both diseases in the proband. Electron microscopy of the bone collagen demonstrated type I collagen fibers, which are reduced in number, decreased in diameter, and stellate rather than smooth in outline. Three populations of collagen fibers were observed in the bone. The synthesis of type I collagen by dermal fibroblasts was diminished in the proband and affected relatives, but it was normal in the unaffected relatives. Since collagen fibers with a stellate outline have not been observed in OI bone, an intriguing question is the effect to the putative Paget agent (? viral) on collagen synthesis in OI. (Arch Intern Med 1983;143:2250-2257) References 1. Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-116.Crossref 2. Pygott F: Paget disease of bone: The radiological incidence. Lancet 1957;1:841-843. 3. Collins DH: Paget disease of bone: Incidence and subclinical forms. Lancet 1956;2:51-57.Crossref 4. Rosenkrantz JA, Wolf J, Kaicher JJ: Paget disease (osteitis deformans): Review of 111 cases. Arch Intern Med 1952;90:610-633.Crossref 5. Rowe DW, Shapiro JR: Biochemical features of cultured skin fibroblasts from patients with osteogenesis imperfecta , in Akeson WJ, Bornstein P, Glimcher MJ (eds): Symposium on Heritable Disorders of Connective Tissue . St Louis, CV Mosby Co, 1982, pp 269-282. 6. Biering A, Iversen T: Osteogenesis imperfecta with Ehlers-Danlos syndrome. Acta Pediatr 1955;44:279-286.Crossref 7. Meigel WN, Muller PK, Pontz BF, et al: A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis. Klin Wochenschr 1974;52:906-912.Crossref 8. Carey M, Fitzgerald O, McKiernan E: Osteogenesis imperfecta in 23 members of a kindred with heritable features contributed by a nonspecific skeletal disorder. Q J Med 1968;37:437-449. 9. Woodcock CW: Pseudoxanthoma elasticum, angioid streaks of retina and osteitis deformans. Arch Dermatol 1952;65:623-633.Crossref 10. Shaffer F, Copelan HW, Beerman H: Pseudoxanthoma elasticum. Arch Dermatol 1957;76:622-625.Crossref 11. Singer FR: Paget Disease of Bone . New York, Plenum Publishing Corp, 1977, p 25. 12. Singer FR: Paget's disease of bone: A slow virus infection. Calcif Tissue Int 1980;31:185-187.Crossref 13. McKusick VA: Heritable Disorders of Connective Tissue . St Louis, CV Mosby Co, 1972. 14. Oyanagi S, ter Meulen V, Katz M, et al: Comparison of subacute sclerosing panencephalitis and measles viruses: An electron microscope study. J Virol 1971;7:176-187. 15. Mills G, Singer FR, Weiner LP, et al: Immunohistological demonstration of respiratory syncytial virus antigens in Paget disease of bone. Proc Natl Acad Sci USA 1981;78:1209-1213.Crossref 16. Mills BG, Singer FR, Weiner LP, et al: Long-term culture of cells from bone affected by Paget's disease. Calcif Tissue Int 1979;29:79-87.Crossref 17. Francis MJO, Smith R: Evidence of a generalized connective tissue defect in Paget disease of bone. Lancet 1974;1:841-842.Crossref 18. Misra DP: Cross-link in bone collagen in Paget disease. J Clin Pathol 1975;28:305-308.Crossref 19. Cheung HS, Singer FR, Mills B, et al: In vitro synthesis of normal bone (type I) collagen by bones of Paget disease patients. Proc Soc Exp Bio Med 1980;163:547-553.Crossref 20. Rowe D, Poirier M, Shapiro JR: Osteogenesis imperfecta: A genetic probe to study type I collagen biosynthesis , in Veis A (ed): Chemistry and Biology of Mineralized Connective Tissues . New York, Elsevier North Holland Inc, 1981, pp 155-162. 21. Barsh GS, Peterson K, Byers PH: Type I osteogenesis imperfecta: A nonfunctional allele for pro α1 (I) chains of type I procollagen. Proc Nat Acad Sci USA , 1982;79:3838-3842.Crossref 22. Rowe DW, Moer RC, Davidson JM, et al: Correlation of procollagen mRNA levels in normal and transformed chick embryo fibroblasts with different rates of procollagen synthesis. Biochemistry 1978;17:1581-1590.Crossref 23. Scheck M, Siegel RC, Parker J, et al: Aortic aneurysm in Marfan's syndrome: Changes in the ultrastructure and composition of collagen. J Anat 1979;129:645-657. 24. Ghadially FN: Ultrastructural Pathology of the Cell and Matrix , ed 2. London, Butterworth Inc, 1982, p 904.
Archives of Internal Medicine – American Medical Association
Published: Dec 1, 1983