Osteopoikilosis - a case report

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Published Jun 30, 2015
DOI: https://doi.org/10.22551/2015.06.0202.10037
Alexandra Rusu Anca Cardoneanu Alexandra Burlui Elena Rezus

Abstract

Osteopoikilosis (OPK) is a very rare and primarily benign autosomal dominant disorder of unknown etiology. Genetic studies showed heterozygous mutations of the LEMD3 gene. It is characterised by the occurrence of hyperostotic spots throughout the skeleton, with the most frequent localizations in the epiphyses and metaphyses of long bones, as well as in the carpal and tarsal bones. The clinical features of osteopoikilosis are poorly represented; consequently the condition is usually diagnosed incidentally on radiological examination or due to the association with other medical disorders (articular pain, fractures, joint dislocations, etc.). We report a case of osteopoikilosis in a 44 year-old man who presented with left hip joint pain and low back pain irradiated in left leg. Radiographs showed typical features of osteopoikilosis. Necessary investigations were done to exclude osteoblastic metastasis. The patient was treated with drugs and physiotherapy with significant improvement of the symptoms.

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Keywords

osteopoikilosis, osteopathia condensans disseminate, Buschke-Ollendorf syndrome, overlap syndrome, sclerotic bone metastases

References
1. Resnick D, Niwayama G. Enostosis, hyperostosis and periostitis. Diagnosis of Bone and Joint Disorders. W.B Saunders Company, Philadelphia. 1988; 4084-4088.
2. Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP. Deactivating Germline Mutations in LEMD3 Cause Osteopoikilosis and Buschke‐Ollendorff Syndrome, but Not Sporadic Melorheostosis. J Bone Miner Res 2007; 22(2):243-250.
3. Lin F, Morrison JM, Wu W, Worman HJ. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. Hum Mol Genet 2000; 14:437–445.
4. Osada S, Ohmori SY, Taira M. XMAN1, an inner nuclear membrane protein, antagonizes BMP signaling by interacting with Smad1 in Xenopus embryos. Development 2003; 130:1783–1794.
5. Hellemans J, Preobrazhenska O. Willaert A et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis,Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 2004; 36:1213–1218.
6. Kaparov A, Sari H, Akarirmark U, Uludag M. De Quervains syndrome associated with osteopoikilosis: a case report and review of the literature. Rheumatol Int 2011; 31(6):809-813.
7. Khot R, Sikarwar JS, Gupta RP, Sharma GL. Osteopoikilosis: a case report. Ind J Radiol Imag 2005; 15(4):453-454.
8. Roberts NM, Langtry JAA, Branfoot AC, Gleeson J, Staughton RCD. Osteopoikilosis and the Buschke-Ollendorf syndrome. Br J Radiol 1993; 66:468-470.
9. Sandhu, Harvey, Ross, Robinson, Collins, Cook. Hip pain in a 38 year old man. Clin Orthop Relat Res 2004; 424:287-294.
10. Horwitz M. Osteopathia Condensans Disseminata (Osteopoikilosis). Radiology 1943; 40:404-407.
11. Agostinelli JR. Osteopoikilosis. A case report. J Am Podiary Assoc 1983; 73:529.
12. Benli IT, Akalyn S, Baysan E et al. Epidemiological and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 1992; 74(4):504-506.
13. Lagier R, Mbakop A, Bigler A. Osteopoikilosis: a radiological and pathological study. Skeletal Radiol 1984; 11(3):161-8.
14. Greenspan A, Jundt G, Remagen W. Differential Diagnosis in Orthopaedic Oncology. Lippincott. Second Edition. Phyladelphya: Chapter 2; 2007: 51-74.
15. Young LW, Gersman I, Simon PR. Radiological case of the month. Osteopoikilosis: familial documentation. Am J Dis Child 1980; 134(4):415-416.
16. Havitcioglu H, Gunal I, Gocen S. Synovial chondromatosis associated with osteopoikilosis-A case report. Acta Orthop Scand 1998; 69:649-650.
17. Alymlahi E, Chami I, Boujida NM, Bacadi D. Osteopoikilosis (OPK). Applied Radiol 2007; 36(3).
How to Cite
Rusu, A., Cardoneanu, A., Burlui, A., & Rezus, E. (2015). Osteopoikilosis - a case report. Archive of Clinical Cases, 2(2), Arch Clin Cases 2015; 2(2):81-85. https://doi.org/10.22551/2015.06.0202.10037
Issue
Vol. 2 No. 2 (2015)
Section
Case Reports

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How to Cite

Rusu, A., Cardoneanu, A., Burlui, A., & Rezus, E. (2015). Osteopoikilosis - a case report. Archive of Clinical Cases, 2(2), Arch Clin Cases 2015; 2(2):81-85. https://doi.org/10.22551/2015.06.0202.10037