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Axial osteosclerosis

MedGen UID:
98482
•Concept ID:
C0432264
•
Disease or Syndrome
Synonym: Osteomesopyknosis
SNOMED CT: Axial osteosclerosis (254125009); Osteomesopycnosis (254125009)
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:0008155
OMIM®: 166450
Orphanet: ORPHA2777

Definition

Osteomesopyknosis is a nonmalignant sclerosing bone dysplasia of the axial skeleton. Osteosclerosis is limited to the axial skeleton, pelvis, and proximal long bones. The condition is often an incidental radiologic finding in a young adult complaining of back pain. Patients have normal height and laboratory examinations are within normal limits (summary by Yao and Camacho, 2014). [from OMIM]

Clinical features

From HPO
Low back pain
MedGen UID:
7389
•Concept ID:
C0024031
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
See: Feature record | Search on this feature
Infertility disorder
MedGen UID:
43876
•Concept ID:
C0021359
•
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
See: Feature record | Search on this feature
Increased bone mineral density
MedGen UID:
10502
•Concept ID:
C0029464
•
Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAxial osteosclerosis
Follow this link to review classifications for Axial osteosclerosis in Orphanet.

Recent clinical studies

Etiology

Radiological spectrum of endemic fluorosis: relationship with calcium intake.
Mithal A, Trivedi N, Gupta SK, Kumar S, Gupta RK
Skeletal Radiol 1993;22(4):257-61. doi: 10.1007/BF00197670. PMID: 8316868

Diagnosis

Periarticular calcifications containing giant pseudo-crystals of francolite in skeletal fluorosis from 1,1-difluoroethane "huffing".
Salles Rosa Neto N, Englert D, McAlister WH, Mumm S, Mills D, Veis DJ, Burshell A, Boyde A, Whyte MP
Bone 2022 Jul;160:116421. Epub 2022 Apr 13 doi: 10.1016/j.bone.2022.116421. PMID: 35429657
Partial Claviculectomy to Relieve Tracheal Compression in an Adult Male with Osteomesopyknosis.
Sundaram N, Andraska E, Salem K, Hager E, Singh MJ
Ann Vasc Surg 2022 Apr;81:387.e9-387.e14. Epub 2022 Jan 16 doi: 10.1016/j.avsg.2022.01.002. PMID: 35045312Free PMC Article
Osteomesopyknosis--a benign axial hyperostosis that can mimic metastatic disease.
Heursen EM, González Partida Mdel C, Paz Expósito J, Navarro Díaz F
Skeletal Radiol 2016 Jan;45(1):141-6. Epub 2015 Jul 17 doi: 10.1007/s00256-015-2216-3. PMID: 26185059
Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature.
Civitelli R, McAlister WH, Teitelbaum SL, Whyte MP
J Bone Miner Res 1989 Dec;4(6):863-75. doi: 10.1002/jbmr.5650040611. PMID: 2692405
Procollagen type I carboxy-terminal extension peptide in serum as a marker of collagen biosynthesis in bone. Correlation with Iliac bone formation rates and comparison with total alkaline phosphatase.
Parfitt AM, Simon LS, Villanueva AR, Krane SM
J Bone Miner Res 1987 Oct;2(5):427-36. doi: 10.1002/jbmr.5650020510. PMID: 3455625

Therapy

Skeletal fluorosis from instant tea.
Whyte MP, Totty WG, Lim VT, Whitford GM
J Bone Miner Res 2008 May;23(5):759-69. doi: 10.1359/jbmr.080101. PMID: 18179362
Radiological spectrum of endemic fluorosis: relationship with calcium intake.
Mithal A, Trivedi N, Gupta SK, Kumar S, Gupta RK
Skeletal Radiol 1993;22(4):257-61. doi: 10.1007/BF00197670. PMID: 8316868

Prognosis

Procollagen type I carboxy-terminal extension peptide in serum as a marker of collagen biosynthesis in bone. Correlation with Iliac bone formation rates and comparison with total alkaline phosphatase.
Parfitt AM, Simon LS, Villanueva AR, Krane SM
J Bone Miner Res 1987 Oct;2(5):427-36. doi: 10.1002/jbmr.5650020510. PMID: 3455625

Clinical prediction guides

Skeletal fluorosis from instant tea.
Whyte MP, Totty WG, Lim VT, Whitford GM
J Bone Miner Res 2008 May;23(5):759-69. doi: 10.1359/jbmr.080101. PMID: 18179362
Recovery from skeletal fluorosis (an enigmatic, American case).
Kurland ES, Schulman RC, Zerwekh JE, Reinus WR, Dempster DW, Whyte MP
J Bone Miner Res 2007 Jan;22(1):163-70. doi: 10.1359/jbmr.060912. PMID: 17014382
Procollagen type I carboxy-terminal extension peptide in serum as a marker of collagen biosynthesis in bone. Correlation with Iliac bone formation rates and comparison with total alkaline phosphatase.
Parfitt AM, Simon LS, Villanueva AR, Krane SM
J Bone Miner Res 1987 Oct;2(5):427-36. doi: 10.1002/jbmr.5650020510. PMID: 3455625

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