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Craniotubular Hyperostosis

MedGen UID:
1384891
•Concept ID:
C4329692
•
Disease or Syndrome

Definition

A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniotubular Hyperostosis

Professional guidelines

PubMed

Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities.
Hendrickx G, Boudin E, Steenackers E, Nielsen TL, Andersen M, Brixen K, Van Hul W
Calcif Tissue Int 2017 Mar;100(3):244-249. Epub 2017 Jan 12 doi: 10.1007/s00223-016-0213-8. PMID: 28078366

Recent clinical studies

Etiology

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
Pain improvement in Camurati-Engelmann disease after anti-TNFα therapy.
Moreira S, Cunha B, Jesus NP, Santos L
BMJ Case Rep 2017 Nov 28;2017 doi: 10.1136/bcr-2017-221760. PMID: 29184006Free PMC Article
Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities.
Hendrickx G, Boudin E, Steenackers E, Nielsen TL, Andersen M, Brixen K, Van Hul W
Calcif Tissue Int 2017 Mar;100(3):244-249. Epub 2017 Jan 12 doi: 10.1007/s00223-016-0213-8. PMID: 28078366
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis.
López JM, Balemans W, Piters E, Van Hul W, González G
Bone 2008 Aug;43(2):405-409. Epub 2008 Apr 29 doi: 10.1016/j.bone.2008.04.011. PMID: 18538647
The natural history of sclerosteosis.
Hamersma H, Gardner J, Beighton P
Clin Genet 2003 Mar;63(3):192-7. doi: 10.1034/j.1399-0004.2003.00036.x. PMID: 12694228

Diagnosis

A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin.
Ekhzaimy AA, Alyusuf EY, Alswailem M, Alzahrani AS
Medicina (Kaunas) 2022 Jan 28;58(2) doi: 10.3390/medicina58020202. PMID: 35208525Free PMC Article
Pain improvement in Camurati-Engelmann disease after anti-TNFα therapy.
Moreira S, Cunha B, Jesus NP, Santos L
BMJ Case Rep 2017 Nov 28;2017 doi: 10.1136/bcr-2017-221760. PMID: 29184006Free PMC Article
Autosomal dominant osteosclerosis.
Gelman MI
Radiology 1977 Nov;125(2):289-96. doi: 10.1148/125.2.289. PMID: 198844

Therapy

Pain improvement in Camurati-Engelmann disease after anti-TNFα therapy.
Moreira S, Cunha B, Jesus NP, Santos L
BMJ Case Rep 2017 Nov 28;2017 doi: 10.1136/bcr-2017-221760. PMID: 29184006Free PMC Article
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis.
López JM, Balemans W, Piters E, Van Hul W, González G
Bone 2008 Aug;43(2):405-409. Epub 2008 Apr 29 doi: 10.1016/j.bone.2008.04.011. PMID: 18538647

Prognosis

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE
Nat Genet 2014 Jan;46(1):70-6. Epub 2013 Nov 17 doi: 10.1038/ng.2829. PMID: 24241535
The natural history of sclerosteosis.
Hamersma H, Gardner J, Beighton P
Clin Genet 2003 Mar;63(3):192-7. doi: 10.1034/j.1399-0004.2003.00036.x. PMID: 12694228

Clinical prediction guides

Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities.
Hendrickx G, Boudin E, Steenackers E, Nielsen TL, Andersen M, Brixen K, Van Hul W
Calcif Tissue Int 2017 Mar;100(3):244-249. Epub 2017 Jan 12 doi: 10.1007/s00223-016-0213-8. PMID: 28078366
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE
Nat Genet 2014 Jan;46(1):70-6. Epub 2013 Nov 17 doi: 10.1038/ng.2829. PMID: 24241535
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis.
López JM, Balemans W, Piters E, Van Hul W, González G
Bone 2008 Aug;43(2):405-409. Epub 2008 Apr 29 doi: 10.1016/j.bone.2008.04.011. PMID: 18538647
Camurati-Engelmann disease. Review of radioclinical features.
Vanhoenacker FM, Janssens K, Van Hul W, Gershoni-Baruch R, Brik R, De Schepper AM
Acta Radiol 2003 Jul;44(4):430-4. doi: 10.1080/j.1600-0455.2003.00088.x. PMID: 12846694
Autosomal dominant osteosclerosis.
Gelman MI
Radiology 1977 Nov;125(2):289-96. doi: 10.1148/125.2.289. PMID: 198844

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