Osteopoikilosis

Osteopoikilosis
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
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. 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]

It can be associated with melorheostosis.[3]

It has been tied to LEMD3.[4]

Buschke-Ollendorff syndrome is a similar condition,[5] which is also associated with LEMD3.[6]

References

  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. 
  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. 
  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. 
  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?
  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. 
v · d · eOsteochondrodysplasia (Q77–Q78, 756.4–756.5)
Osteodysplasia/
osteodystrophy
Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia
Raine syndrome · Osteopoikilosis · Osteopetrosis
Other/ungrouped
FLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia (McCune-Albright syndrome)
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
enchondromatosis (Ollier disease, Maffucci syndrome)
Other dwarfism

M: BON/CAR

anat(c/f/k/f, u, t/p, l)/phys/devp/cell

noco/cong/tumr, sysi/epon, injr

proc, drug(M5)
v · d · eCytoskeletal defects
Microfilaments
Other
Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)
IF
1/2
3
4
5
Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1) · LMNB (Barraquer–Simons syndrome) · LEMD3 (Buschke–Ollendorff syndrome, Osteopoikilosis) · LBR (Pelger-Huet anomaly, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia)
Microtubules
Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3
Other
Tauopathy · Cavernous venous malformation
Membrane
Catenin
Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk



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