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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/11/20 15:03:38」(JST)

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Osteopoikilosis of the hips on CT.

Osteopoikilosis is an benign, autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton.^[1]

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. Hi 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.

Men and women are affected in equal number.^[2] Reflecting the fact that this disease attacks indiscriminately. Additionally, the disease is often associated with melorheostosis,^[3]., despite the apparent lack of correlation between Melorheostosis and genetic heritability.^{[citation needed]} It has been tied to LEMD3.^[4] 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. PMC 2658513. PMID 17452689. http://emj.bmj.com/cgi/pmidlookup?view=long&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). "Melorheostosis in a family with autosomal dominant osteopoikilosis". Am. J. Med. Genet. 82 (5): 409–14. doi:10.1002/(SICI)1096-8628(19990219)82:5<409::AID-AJMG10>3.0.CO;2-2. 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.
^ synd/1803 at Who Named It?
^ 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.

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English Journal

Buschke-Ollendorff Syndrome and Bilateral Cutaneous Syndactyly.

Fernández-Faith E, Kress D, Piliang M, Sachdeva M, Vidimos A.SourceDermatology Department, Cleveland Clinic, Cleveland, Ohio Pediatric Dermatology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania Dermpath Diagnostics, Pittsburgh, Pennsylvania.
Pediatric dermatology.Pediatr Dermatol.2011 Dec 9. doi: 10.1111/j.1525-1470.2011.01417.x. [Epub ahead of print]
A 3-year-old boy presented with asymptomatic elastomas on the posterior trunk. Radiographic studies revealed osteopoikilosis, confirming the diagnosis of Buschke-Ollendorff syndrome. The patient had a history of bilateral simple cutaneous syndactyly, which has not been previously reported with t
PMID 22150319

Report of a mother and daughter with the 12q14 microdeletion syndrome.

Bibb AL, Rosenfeld JA, Weaver DD.SourceDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana. a.l.bibb@emory.edu.
American journal of medical genetics. Part A.Am J Med Genet A.2011 Dec 2. doi: 10.1002/ajmg.a.34397. [Epub ahead of print]
The 12q14 microdeletion syndrome is characterized by microcephaly, short stature, osteopoikilosis, weight deficiency, and learning disabilities. We report on a mother and daughter with a 12q14 microdeletion. To our knowledge these are the first reported familial cases with the syndrome. We also disc
PMID 22140081

Japanese Journal

生検にて診断した骨斑紋症(オステオポイキローシス)の1例

庄司寛和,生越章,堀田哲夫,川島寛之,遠藤直人
新潟整形外科研究会会誌 23(1), 5-8, 2007-06
NAID 110006316857

症例報告骨斑紋症の兄弟例

多喜祥子,山崎征治,今村進吾 [他]
臨床整形外科 42(10), 1051-1054, 2007-10
NAID 40015664979

Related Pictures

★リンクテーブル★

リンク元

「骨斑紋症」

Osteopoikilosis
	Classification and external resources
	; Osteopoikilosis on a x-ray of the hands
ICD-10	Q78.8
ICD-9	756.53
OMIM	166700
DiseasesDB	30071
eMedicine	derm/733
MeSH	D010023

　　[★]

英: osteopoikilosis, spotted bone
ラ: osteopathia condensans disseminata
同: 骨斑影症 spotted bone、汎発性骨斑症 familial disseminated osteosclerosis

[pmid17452689-1] 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. PMC 2658513. PMID 17452689. http://emj.bmj.com/cgi/pmidlookup?view=long&pmid=17452689.

[pmid17106662-2] 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.

[pmid10069713-3] Nevin NC, Thomas PS, Davis RI, Cowie GH (1999). "Melorheostosis in a family with autosomal dominant osteopoikilosis". Am. J. Med. Genet. 82 (5): 409–14. doi:10.1002/(SICI)1096-8628(19990219)82:5<409::AID-AJMG10>3.0.CO;2-2. PMID 10069713.

[pmid15489854-4] 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.

[5] synd/1803 at Who Named It?

[pmid17087626-6] 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.

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案内

osteopoikilosis