Osteopoikilosis was first described by Albers-Schonberg 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 epimetaphysial regions of the short tubular bones. The incidence is estimated as 1/50,000 (Cazzola et al. 1989).
Synonyms and Related Disorders
Buschke–Ollendorff syndrome; Melorheostosis; Osteopathia striata
Genetics/Basic Defects
- 1.
Inherited in an autosomal dominant pattern
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Caused by loss of function mutation of LEM domain-containing three gene (LEMD3)
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Usually occurs in isolation
- 4.
Osteopoikilosis in association with elastic or collagen connective tissue nevi of the skin, known as Buschke–Ollendorff syndrome (dermatofibrosis lenticularis disseminate)
- 5.
In some families and individuals, osteopoikilosis can occur with other osteosclerotic skeletal disorders, such as melorheostosis and osteopathia striata.
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References
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(2012). Osteopoikilosis. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_187
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