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Melorheostosis with osteopoikilosis

MedGen UID:
461045
•Concept ID:
C3149695
•
Disease or Syndrome
Synonym: Melorheostosis with Osteopoikilosis
SNOMED CT: Mixed sclerosing bone dystrophy (1197053003); Melorheostosis with osteopoikilosis (1197053003); MSBD (mixed sclerosing bone dystrophy) syndrome (1197053003)
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015995
OMIM®: 166700; 607844
Orphanet: ORPHA1879

Definition

A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMelorheostosis with osteopoikilosis

Recent clinical studies

Etiology

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
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
Human Genetics of Sclerosing Bone Disorders.
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
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
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
Sclerosing bone dysplasias: genetic and radioclinical features.
Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM
Eur Radiol 2000;10(9):1423-33. doi: 10.1007/s003300000495. PMID: 10997431
Sclerosing bone dysplasias--a target-site approach.
Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023

Diagnosis

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
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
Melorheostosis: a Rare Sclerosing Bone Dysplasia.
Kotwal A, Clarke BL
Curr Osteoporos Rep 2017 Aug;15(4):335-342. doi: 10.1007/s11914-017-0375-y. PMID: 28676968
Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders.
Boulet C, Madani H, Lenchik L, Vanhoenacker F, Amalnath DS, de Mey J, De Maeseneer M
Br J Radiol 2016 Jun;89(1062):20150349. Epub 2016 Feb 22 doi: 10.1259/bjr.20150349. PMID: 26898950Free PMC Article
Melorheostosis mimicking synovial osteochondromatosis.
Wadhwa V, Chhabra A, Samet JD
Ann Saudi Med 2014 Nov-Dec;34(6):547-50. doi: 10.5144/0256-4947.2014.547. PMID: 25971832Free PMC Article
Sclerosing bone dysplasias: genetic and radioclinical features.
Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM
Eur Radiol 2000;10(9):1423-33. doi: 10.1007/s003300000495. PMID: 10997431

Prognosis

Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
Gutierrez D, Cooper KD, Mitchell AL, Cohn HI
Pediatr Dermatol 2015 Sep-Oct;32(5):e219-20. Epub 2015 Jul 2 doi: 10.1111/pde.12634. PMID: 26135202
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
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
Linear scleroderma and melorheostosis: case presentation and literature review.
Moreno Alvarez MJ, Lázaro MA, Espada G, Barceló HA, Maldonado Cocco A
Clin Rheumatol 1996 Jul;15(4):389-93. doi: 10.1007/BF02230364. PMID: 8853175

Clinical prediction guides

Aneurysmal bone cyst-like changes developed in melorheostosis with epiphyseal osteopoikilosis.
Spinnato P, Colangeli M, Pedrini E, Parmeggiani A, Papalexis N, Crombé A, Gambarotti M, Bazzocchi A
Skeletal Radiol 2024 Jul;53(7):1437-1441. Epub 2023 Nov 28 doi: 10.1007/s00256-023-04529-8. PMID: 38015230
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
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
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
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
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
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
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
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

Supplemental Content

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