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Isolated osteopoikilosis

MedGen UID:
318940
Concept ID:
C1833699
Disease or Syndrome
Synonym: Osteopoikilosis, Isolated
SNOMED CT: Isolated osteopoikilosis (1231182008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0015634
OMIM®: 166700
Orphanet: ORPHA166119

Definition

A rare primary bone dysplasia with characteristics of multiple small round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal and tarsal bones. The condition is usually clinically silent and discovered only incidentally although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated osteopoikilosis

Recent clinical studies

Etiology

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
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

Diagnosis

Ruaro B, Sulli A, Alessandri E, Ravera F, Cutolo M
Reumatismo 2012 Dec 11;64(5):335-9. doi: 10.4081/reumatismo.2012.335. PMID: 23256110
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
Whyte MP, Murphy WA, Fallon MD, Hahn TJ
Skeletal Radiol 1981;6(2):95-102. doi: 10.1007/BF00347570. PMID: 7256311

Prognosis

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

Clinical prediction guides

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
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
Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP
Clin Genet 2009 Jun;75(6):556-61. Epub 2009 May 5 doi: 10.1111/j.1399-0004.2009.01177.x. PMID: 19438932
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

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