U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Osteopoikilosis

MedGen UID:
45251
Concept ID:
C0029455
Disease or Syndrome; Finding
Synonym: Osteopoikilosis (disease)
SNOMED CT: Osteopoikilosis (9147009)
 
HPO: HP:0010739
Monarch Initiative: MONDO:0001414
OMIM®: 607844

Definition

Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteopoikilosis

Conditions with this feature

Dermatofibrosis lenticularis disseminata
MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Buschke-Ollendorff syndrome (BOS) is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).
Dacryocystitis-osteopoikilosis syndrome
MedGen UID:
318939
Concept ID:
C1833698
Disease or Syndrome
An exceedingly rare autosomal dominant disorder reported in only a few patients to date with characteristics of dacryocystitis due to lacrimal canal stenosis and osteopoikilosis (demonstrated radiologically as discrete spherical osteosclerotic lesions of 2-10 mm in diameter).

Professional guidelines

PubMed

Pollen AG
J Bone Joint Surg Br 1968 Feb;50(1):91-101. PMID: 5641601

Recent clinical studies

Etiology

Abeykoon JP, Ravindran A, Rech KL, Young JR, Oliver Tobin W, Shah MV, Nora Bennani N, Vassallo R, Ryu JH, Koster MJ, Davidge-Pitts CJ, Goyal G, Go RS; Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group
Br J Haematol 2022 Feb;196(4):984-994. Epub 2021 Nov 20 doi: 10.1111/bjh.17949. PMID: 34799853
Wordsworth P, Chan M
Calcif Tissue Int 2019 May;104(5):530-543. Epub 2019 Apr 15 doi: 10.1007/s00223-019-00543-y. PMID: 30989250
De Ridder R, Boudin E, Mortier G, Van Hul W
Curr Osteoporos Rep 2018 Jun;16(3):256-268. doi: 10.1007/s11914-018-0439-7. PMID: 29656376
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article
Hassikou H, Tabache F, Safi S, Baaj M, Hadri L
Joint Bone Spine 2008 Mar;75(2):212-4. Epub 2008 Mar 3 doi: 10.1016/j.jbspin.2007.04.027. PMID: 18313966

Diagnosis

Abeykoon JP, Ravindran A, Rech KL, Young JR, Oliver Tobin W, Shah MV, Nora Bennani N, Vassallo R, Ryu JH, Koster MJ, Davidge-Pitts CJ, Goyal G, Go RS; Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group
Br J Haematol 2022 Feb;196(4):984-994. Epub 2021 Nov 20 doi: 10.1111/bjh.17949. PMID: 34799853
Mukai T, Morita Y
Rheumatology (Oxford) 2022 Feb 2;61(2):879-880. doi: 10.1093/rheumatology/keab436. PMID: 33989397
Liu S, Zhou X, Song A, Huo Z, Liu Y, Wang Y
Postgrad Med J 2019 Dec;95(1130):679. Epub 2019 Aug 1 doi: 10.1136/postgradmedj-2019-136705. PMID: 31371461
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article
Hassikou H, Tabache F, Safi S, Baaj M, Hadri L
Joint Bone Spine 2008 Mar;75(2):212-4. Epub 2008 Mar 3 doi: 10.1016/j.jbspin.2007.04.027. PMID: 18313966

Therapy

Nso-Roca AP, Marco FC, Ricote JM, Ruiz MJ
J Pediatr Endocrinol Metab 2014 May;27(5-6):539-43. doi: 10.1515/jpem-2013-0239. PMID: 24468604
Woyciechowsky TG, Monticielo MR, Keiserman B, Monticielo OA
Clin Rheumatol 2012 Apr;31(4):745-8. Epub 2012 Jan 14 doi: 10.1007/s10067-011-1916-x. PMID: 22246417
Kaparov A, Uludag M, Sari H, Akarirmak U
Rheumatol Int 2011 Jun;31(6):809-13. Epub 2009 Oct 25 doi: 10.1007/s00296-009-1239-2. PMID: 19856179
Bicer A, Tursen U, Ozer C, Kaya TI, Dusmez D, Ikizoglu G
Clin Rheumatol 2002 Sep;21(5):405-7. doi: 10.1007/s100670200108. PMID: 12223992
Pan KL, Ibrahim S
Med J Malaysia 2000 Sep;55 Suppl C:107-8. PMID: 11200037

Prognosis

Zhang Q, Mo ZH, Dong CS, Yang F, Xie YH, Jin P
J Endocrinol Invest 2016 Jun;39(6):679-85. Epub 2015 Dec 22 doi: 10.1007/s40618-015-0419-z. PMID: 26694706
Hill CE, McKee L
Injury 2015 Jul;46(7):1403-5. Epub 2015 Feb 11 doi: 10.1016/j.injury.2015.02.005. PMID: 25707878
Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR
Hum Mutat 2006 Mar;27(3):290. doi: 10.1002/humu.9403. PMID: 16470551
Carpintero P, Abad JA, Serrano P, Serrano JA, Rodríguez P, Castro L
Clin Rheumatol 2004 Dec;23(6):505-8. doi: 10.1007/s10067-004-0935-2. PMID: 15801069
Al Attia HM, Sherif AM
Clin Rheumatol 1998;17(2):172-5. doi: 10.1007/BF01452270. PMID: 9641521

Clinical prediction guides

Mohsenpour B, Ahmadi A
J Med Case Rep 2023 Jul 12;17(1):292. doi: 10.1186/s13256-023-04025-6. PMID: 37434212Free PMC Article
Gnoli M, Staals EL, Campanacci L, Bedeschi MF, Faletra F, Gallone S, Gaudio A, Mattina T, Gurrieri F, Percesepe A, Neri I, Virdi A, Tremosini M, Milanesi A, Brizola E, Pedrini E, Sangiorgi L
Calcif Tissue Int 2019 Aug;105(2):215-221. Epub 2019 May 25 doi: 10.1007/s00223-019-00565-6. PMID: 31129707
Zhang Q, Mo ZH, Dong CS, Yang F, Xie YH, Jin P
J Endocrinol Invest 2016 Jun;39(6):679-85. Epub 2015 Dec 22 doi: 10.1007/s40618-015-0419-z. PMID: 26694706
Saussine A, Marrou K, Delanoé P, Bodak N, Hamel D, Picard A, Sassolas B, de Prost Y, Lemerrer M, Fraitag S, Bodemer C
J Am Acad Dermatol 2012 Aug;67(2):233-9. Epub 2011 Oct 19 doi: 10.1016/j.jaad.2011.08.008. PMID: 22014540
Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S
BMC Med Genet 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110. PMID: 20618940Free PMC Article

Recent systematic reviews

Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G, Lara-Corrales I
Br J Dermatol 2016 Apr;174(4):723-9. Epub 2016 Mar 8 doi: 10.1111/bjd.14366. PMID: 26708699
Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J
Orphanet J Rare Dis 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. PMID: 22913777Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...