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).
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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.
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.
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.
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.
Bicer, A., Tursen, H., Ozer, C., et al. (2002). Coexistence of osteopoikilosis and discoid lupus erythematosus: A case report. Clinical Rheumatology, 21, 405–407.
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.
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.
Buschke, A., & Ollendorff, H. (1928). Ein fall von dermatofibrosis lenticularis disseminata and osteopathia condensans disseminata. Dermatol Worchenschr, 86, 257–262.
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.
Carpintero, P., Abad, J. A., Serrano, P., et al. (2004). Clinical features of ten cases of osteopoikilosis. Clinical Rheumatology, 23, 505–508.
Cazzola, M., Caruso, I., Montrone, F., et al. (1989). Rheumatoid arthritis associated with osteopoikilosis: A case report. Clinical and Experimental Rheumatology, 7, 423–426.
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.
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.
Dasgupta, R., & Thomas, N. (2015). Spotted bone disease. BMJ Case Reports, 2015, 1–2.
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.
Foo, C. C., & Kumarasinghe, S. P. (2005). Juvenile elastoma: A forme fruste of the Buschke–Ollendorff syndrome? Australas Journal of Dermatology, 46, 250–252.
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.
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.
Hellemans, J., Debeer, P., Wright, M., et al. (2006). Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Human Mutation, 27, 290.
Hill, C. E., & McKee, L. (2015). Osteopoikilosis: An important incidental finding. Injury, 46, 1403–1405.
Kadhim, M., Deardorff, M. A., Dubbs, H., et al. (2015). Melorheostosis: Segmental osteopoikilosis or a separate entity? Journal of Pediatric Orthopedics, 35, e13–e17.
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.
Korkmaz, M. F., Elli, M., Özkan, M. B., et al. (2015). Osteopoikilosis: Report of a familial case and review of the literature. Rheumatology International, 35, 921–924.
Lagier, R., Mbakop, A., & Bigler, A. (1984). Osteopoikilosis: A radiological and pathological study. Skeletal Radiology, 11, 161–168.
Mahbouba, J., Mondher, G., Amira, M., et al. (2015). Osteopoikilosis: A rare cause of bone pain. Caspian Journal of Internal Medicine, 6, 177–179.
Mclennan, M. K. (1999). Radiology rounds. 4. Osteopoikilosis. Canadian Family Physician, 45, 2313, 2318, 2320.
Mesci, E. (2006). Coexistence of osteopoikilosis with reactive arthritis: A case report. Rheumatology International, 26, 672–675.
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.
Negi, R. S., Manchanda, K. L., Sanga, S., et al. (2013). Osteopoikilosis – Spotted bone disease. Medical Journal Armed Forces India, 69, 196–198.
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.
Perin, S., Rabach, I., Pascolo, P., et al. (2016). A spotted bone. Journal of Pediatrics ,176, 220.
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.
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.
Surrenti, T., Callea, F., De Horatio, L. T., et al. (2014). Buschke-Ollendorff syndrome: Sparing unnecessary investigations. Cutis, 94, 97–100.
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.
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.
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.
Ureten, K. (2007). Osteopoikilosis in a patient with rheumatoid arthritis complicated with dry eyes. Rheumatology International, 27, 1079–1082.
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.
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.
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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
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_187
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