Skip to main content

Osteopoikilosis

  • Reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling
  • 334 Accesses

Abstract

Osteopoikilosis was first described by Albers-Schönberg in 1915. It is a benign, usually asymptomatic condition diagnosed radiographically by the presence of multiple symmetrical circular/ovoid sclerotic opacities of the ischia, pubic bones, and the epimetaphyseal regions of the short tubular bones. The incidence is estimated as 1/50,000 (Cazzola et al. 1989).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

Similar content being viewed by others

References

  • Amezcua-Guerra, L. M., Mansilla-Lory, J., Fernandez-Tapia, S., et al. (2005). Osteopoikilosis in an ancient skeleton: More than a medical curiosity. Clinical Rheumatology, 24(5), 502–506.

    Article  CAS  PubMed  Google Scholar 

  • An, Y. S., Yoon, J. K., Lee, M. H., et al. (2004). Abnormal bone scan in an adult with osteopoikilosis. Clinical Nuclear Medicine, 29(12), 856–858.

    Article  PubMed  Google Scholar 

  • Appenzeller, S., Castro, G. R. W., & Coimbra, I. B. (2007). Osteopoikilosis with abnormal bone scan. Long-term follow-up. Journal of Clinical Rheumatology, 13, 291–292.

    Article  PubMed  Google Scholar 

  • Benli, I. T., Akalin, S., Boysan, E., et al. (1992). Epidemiological, clinical and radiological aspects of osteopoikilosis. The Journal of Bone and Joint Surgery. British Volume, 74, 504–506.

    CAS  PubMed  Google Scholar 

  • Bicer, A., Tursen, H., Ozer, C., et al. (2002). Coexistence of osteopoikilosis and discoid lupus erythematosus: A case report. Clinical Rheumatology, 21, 405–407.

    Article  CAS  PubMed  Google Scholar 

  • Borman, P., Ozoran, K., Aydog, S., et al. (2002). Osteopoikilosis: Report of a clinical case and review of the literature. Joint, Bone, Spine, 69, 230–233.

    Article  PubMed  Google Scholar 

  • Brodbeck, M., Yousif, Q., Diener, P. A., et al. (2016). The Buschke–Ollendorff syndrome: A case report of simultaneous osteo-cutaneous malformations in the hand. BMC Research Notes, 9, 1–4.

    Article  Google Scholar 

  • Buschke, A., & Ollendorff, H. (1928). Ein fall von dermatofibrosis lenticularis disseminata and osteopathia condensans disseminata. Dermatol Worchenschr, 86, 257–262.

    Google Scholar 

  • Butkus, C. E., Michels, V. V., Lindor, N. M., et al. (1997). Melorheostosis in a patient with familial osteopoikilosis. American Journal of Medical Genetics, 72, 43–46.

    Article  CAS  PubMed  Google Scholar 

  • Carpintero, P., Abad, J. A., Serrano, P., et al. (2004). Clinical features of ten cases of osteopoikilosis. Clinical Rheumatology, 23, 505–508.

    Article  CAS  PubMed  Google Scholar 

  • Cazzola, M., Caruso, I., Montrone, F., et al. (1989). Rheumatoid arthritis associated with osteopoikilosis: A case report. Clinical and Experimental Rheumatology, 7, 423–426.

    CAS  PubMed  Google Scholar 

  • Chigira, M., Kato, K., Mashio, K., et al. (1991). Symmetry of bone lesions in osteopoikilosis: Report of 4 cases. Acta Orthopaedica Scandinavica, 62, 495–496.

    Article  CAS  PubMed  Google Scholar 

  • Couto, A. R., Bruges-Armas, J., Peach, C. A., et al. (2007). A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. Calcified Tissue International, 81, 81–84.

    Article  CAS  PubMed  Google Scholar 

  • Dasgupta, R., & Thomas, N. (2015). Spotted bone disease. BMJ Case Reports, 2015, 1–2.

    Article  CAS  Google Scholar 

  • Debeer, P., Pykels, E., Lammens, J., et al. (2003). Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family. American Journal of Medical Genetics Part A, 119A, 188–193.

    Article  PubMed  Google Scholar 

  • Foo, C. C., & Kumarasinghe, S. P. (2005). Juvenile elastoma: A forme fruste of the Buschke–Ollendorff syndrome? Australas Journal of Dermatology, 46, 250–252.

    Article  Google Scholar 

  • Gutierrez, D., Cooper, K. D., Mitchell, A. L., et al. (2015). Novel somatic mutation in LEMD3 splice site results in Buschke–Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis. Pediatric Dermatology, 32, e219–e220.

    Article  PubMed  Google Scholar 

  • Hellemans, J., Preobrazhenska, O., Willaert, A., et al. (2004). Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nature Genetics, 36, 1213–1218.

    Article  CAS  PubMed  Google Scholar 

  • Hellemans, J., Debeer, P., Wright, M., et al. (2006). Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Human Mutation, 27, 290.

    Article  PubMed  Google Scholar 

  • Hill, C. E., & McKee, L. (2015). Osteopoikilosis: An important incidental finding. Injury, 46, 1403–1405.

    Article  PubMed  Google Scholar 

  • Kadhim, M., Deardorff, M. A., Dubbs, H., et al. (2015). Melorheostosis: Segmental osteopoikilosis or a separate entity? Journal of Pediatric Orthopedics, 35, e13–e17.

    Article  PubMed  Google Scholar 

  • Kavukcu, S., Soylu, A., Turkmen, M., et al. (2003). A case of osteopoikilosis coexisting with amyloidosis of familial Mediterranean fever. Pediatric Nephrology, 18, 1313–1314.

    Article  PubMed  Google Scholar 

  • Korkmaz, M. F., Elli, M., Ă–zkan, M. B., et al. (2015). Osteopoikilosis: Report of a familial case and review of the literature. Rheumatology International, 35, 921–924.

    Article  PubMed  Google Scholar 

  • Lagier, R., Mbakop, A., & Bigler, A. (1984). Osteopoikilosis: A radiological and pathological study. Skeletal Radiology, 11, 161–168.

    Article  CAS  PubMed  Google Scholar 

  • Mahbouba, J., Mondher, G., Amira, M., et al. (2015). Osteopoikilosis: A rare cause of bone pain. Caspian Journal of Internal Medicine, 6, 177–179.

    PubMed  PubMed Central  Google Scholar 

  • Mclennan, M. K. (1999). Radiology rounds. 4. Osteopoikilosis. Canadian Family Physician, 45, 2313, 2318, 2320.

    Google Scholar 

  • Mesci, E. (2006). Coexistence of osteopoikilosis with reactive arthritis: A case report. Rheumatology International, 26, 672–675.

    Article  PubMed  Google Scholar 

  • Mumm, S., Wenkert, D., Zhang, X., et al. (2007). Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. Journal of Bone and Mineral Research, 22, 243–250.

    Article  CAS  PubMed  Google Scholar 

  • Negi, R. S., Manchanda, K. L., Sanga, S., et al. (2013). Osteopoikilosis – Spotted bone disease. Medical Journal Armed Forces India, 69, 196–198.

    Article  CAS  Google Scholar 

  • Nevin, N. C., Thomas, P. S., Davis, R. I., et al. (1999). Melorheostosis in a family with autosomal dominant osteopoikilosis. American Journal of Medical Genetics, 82, 409–414.

    Article  CAS  PubMed  Google Scholar 

  • Perin, S., Rabach, I., Pascolo, P., et al. (2016). A spotted bone. Journal of Pediatrics ,176, 220.

    Google Scholar 

  • Pope, V., Dupuis, L., Kannu, P., et al. (2016). Buschke–Ollendorff syndrome: A novel case series and systematic review. British Journal of Dermatology, 174, 723–729.

    Article  CAS  PubMed  Google Scholar 

  • Savarirayan, R., Nance, J., Morris, L., et al. (1997). Osteopathia striata with cranial sclerosis: Highly variable phenotypic expression within a family. Clinical Genetics, 52, 199–205.

    Article  CAS  PubMed  Google Scholar 

  • Surrenti, T., Callea, F., De Horatio, L. T., et al. (2014). Buschke-Ollendorff syndrome: Sparing unnecessary investigations. Cutis, 94, 97–100.

    PubMed  Google Scholar 

  • Tsai, S.-Y., Wang, S.-Y., Shiau, Y.-C., et al. (2016). Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT. Medicine, 95, 1–2.

    Article  Google Scholar 

  • Tuncel, M., & Caner, B. (2012). Osteopoikilosis: A major diagnostic problem solved by bone scintigraphy. Revista Espanola de Medicina Nuclear e Imagen Molecular, 31, 93–96.

    Article  CAS  PubMed  Google Scholar 

  • Uitto, J., Santa Cruz, D. J., & Starcher, B. C. (1981). Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of Buschke-Ollendorff syndrome. The Journal of Investigative Dermatology, 76, 284–287.

    Article  CAS  PubMed  Google Scholar 

  • Ureten, K. (2007). Osteopoikilosis in a patient with rheumatoid arthritis complicated with dry eyes. Rheumatology International, 27, 1079–1082.

    Article  PubMed  Google Scholar 

  • Zhang, Y., Castori, M., Ferranti, G., et al. (2009). Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clinical Genetics, 75, 556–561.

    Article  CAS  PubMed  Google Scholar 

  • Zhang, Q., Mo, Z. H., Dong, C. S., et al. (2016). Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. Journal of Endocrinological Investigation, 39, 679–685.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media LLC

About this entry

Cite this entry

Chen, H. (2017). Osteopoikilosis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_187

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_187

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics