Osteopoikilosis
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| Osteopoikilosis | |
| ICD-10 | Q78.8 |
|---|---|
| ICD-9 | 756.53 |
| OMIM | 166700 |
| DiseasesDB | 30071 |
| eMedicine | derm/733 |
| MeSH | D010023 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Osteopoikilosis is an inherited disorder of the bone.[1]
Men and women are affected in equal number.[2]
It can be associated with melorheostosis.[3]
Buschke-Ollendorff syndrome is a similar condition,[5] which is also associated with LEMD3.[6]
References
- ↑ Bull M, Calderbank P, Ramachandran N (2007). "A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report". Emerg Med J. 24 (5): e29. doi:10.1136/emj.2006.045765. PMID 17452689.
- ↑ Serdaroğlu M, Capkin E, Uçüncü F, Tosun M (2007). "Case report of a patient with osteopoikilosis". Rheumatol. Int. 27 (7): 683–6. doi:10.1007/s00296-006-0262-9. PMID 17106662.
- ↑ Nevin NC, Thomas PS, Davis RI, Cowie GH (1999). <409::AID-AJMG10>3.0.CO;2-2 "Melorheostosis in a family with autosomal dominant osteopoikilosis". Am. J. Med. Genet. 82 (5): 409–14. PMID 10069713.
- ↑ Hellemans J, Preobrazhenska O, Willaert A; et al. (2004). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis". Nat. Genet. 36 (11): 1213–8. doi:10.1038/ng1453. PMID 15489854.
- ↑ Template:WhoNamedIt
- ↑ Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP (2007). "Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis". J. Bone Miner. Res. 22 (2): 243–50. doi:10.1359/jbmr.061102. PMID 17087626.