Osteopoikilosis

Presentation

The radiographic appearance of osteopoikilosis on an X-ray is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. This is a systemic condition. It must be differentiated from blastic metastasis, which can also present radiographically as white densities interspersed throughout bone. Blastic metastasis tends to present with larger and more irregular densities in less of a uniform pattern. Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger.

The distribution is variable, though it does not tend to affect the ribs, spine, or skull.

Cause

Osteopoikilosis is caused by mutations to the LEMD3 gene. It has autosomal dominant inheritance.

Epidemiology

Men and women are affected in equal number, reflecting the fact that osteopoikilosis attacks indiscriminately. Additionally, the disease is often associated with melorheostosis, despite the apparent lack of correlation between melorheostosis and genetic heritability. It has been tied to LEMD3. Buschke–Ollendorff syndrome is a similar condition, which is also associated with LEMD3.

Image:Osteopoikilie Huefte CT.jpg|Osteopoikilosis of the hips on CT. File:Osteopoikilosis.png|Osteopoikilosis File:NormalBoneScan.png|Normal bone scan in a person with osteopoikilosis

References

References

1. (2007). "A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report". Emerg Med J.
2. (2008). "Get through FRCR part 2B : rapid reporting of plain radiographs". Royal Society of Medicine.
3. Whyte, Michael P.. (2016-01-01). "Hereditary Disorders of the Skeleton∗". W.B. Saunders.
4. (February 2007). "Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis". Journal of Bone and Mineral Research.
5. (2007). "Case report of a patient with osteopoikilosis". Rheumatol. Int..
6. (1999). "Melorheostosis in a family with autosomal dominant osteopoikilosis". Am. J. Med. Genet..
7. (2004). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff syndrome and melorheostosis". Nat. Genet..
8. {{WhoNamedIt. synd. 1803
9. (2007). "Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke–Ollendorff syndrome, but not sporadic melorheostosis". J. Bone Miner. Res..