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Diffuse idiopathic skeletal hyperostosis(DISH)

MedGen UID:
5695
•Concept ID:
C0020498
•
Disease or Syndrome
Synonym: Ankylosing vertebral hyperostosis with tylosis
SNOMED CT: Ankylosing hyperostosis (31487001); Diffuse idiopathic skeletal hyperostosis (31487001); DISH - Diffuse idiopathic skeletal hyperostosis (31487001); Forestier's disease (31487001); Disseminated idiopathic skeletal hyperostosis (31487001)
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:0007127
OMIM®: 106400
Orphanet: ORPHA2206

Definition

A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. [from ORDO]

Clinical features

From HPO
Punctate palmar hyperkeratosis
MedGen UID:
870412
•Concept ID:
C4024857
•
Disease or Syndrome
Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.
See: Feature record | Search on this feature
Vertebral hyperostosis
MedGen UID:
322334
•Concept ID:
C1834057
•
Finding
Excessive growth of the bones of the vertebral bodies.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse idiopathic skeletal hyperostosis
Follow this link to review classifications for Diffuse idiopathic skeletal hyperostosis in Orphanet.

Professional guidelines

PubMed

Diffuse Idiopathic Skeletal Hyperostosis of the Spine: Pathophysiology, Diagnosis, and Management.
Le HV, Wick JB, Van BW, Klineberg EO
J Am Acad Orthop Surg 2021 Dec 15;29(24):1044-1051. doi: 10.5435/JAAOS-D-20-01344. PMID: 34559699
Imaging of axial spondyloarthritis. New aspects and differential diagnoses.
Braun J, Baraliakos X, Buehring B, Kiltz U, Fruth M
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):35-42. Epub 2018 Oct 1 PMID: 30296971
Classification criteria for diffuse idiopathic skeletal hyperostosis: a lack of consensus.
Kuperus JS, de Gendt EEA, Oner FC, de Jong PA, Buckens SCFM, van der Merwe AE, Maat GJR, Regan EA, Resnick DL, Mader R, Verlaan JJ
Rheumatology (Oxford) 2017 Jul 1;56(7):1123-1134. doi: 10.1093/rheumatology/kex056. PMID: 28371859

Recent clinical studies

Etiology

Complications of the Rigid Spine.
Vanhoenacker FM, Vanhoenacker C, Lalam R
Semin Musculoskelet Radiol 2023 Oct;27(5):491-498. Epub 2023 Oct 10 doi: 10.1055/s-0043-1770136. PMID: 37816357
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.
Kato H, Braddock DT, Ito N
Curr Osteoporos Rep 2023 Oct;21(5):552-566. Epub 2023 Aug 2 doi: 10.1007/s11914-023-00814-6. PMID: 37530996Free PMC Article
Surgical management of Diffuse Idiopathic Skeletal Hyperostosis (DISH) causing secondary dysphagia (Narrative review).
Bunmaprasert T, Keeratiruangrong J, Sugandhavesa N, Riew KD, Liawrungrueang W
J Orthop Surg (Hong Kong) 2021 Sep-Dec;29(3):23094990211041783. doi: 10.1177/23094990211041783. PMID: 34592856
Diffuse idiopathic skeletal hyperostosis: Etiology and clinical relevance.
Kuperus JS, Mohamed Hoesein FAA, de Jong PA, Verlaan JJ
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101527. Epub 2020 May 23 doi: 10.1016/j.berh.2020.101527. PMID: 32456997
Diagnosis of diffuse idiopathic skeletal hyperostosis with chest computed tomography: inter-observer agreement.
Oudkerk SF, de Jong PA, Attrach M, Luijkx T, Buckens CF, Mali WP, Oner FC, Resnick DL, Vliegenthart R, Verlaan JJ
Eur Radiol 2017 Jan;27(1):188-194. Epub 2016 Apr 20 doi: 10.1007/s00330-016-4355-x. PMID: 27097788Free PMC Article

Diagnosis

Diffuse Idiopathic Skeletal Hyperostosis.
Graham P
Orthop Nurs 2022 May-Jun 01;41(3):237-239. doi: 10.1097/NOR.0000000000000853. PMID: 35772064
Diffuse Idiopathic Skeletal Hyperostosis of the Spine: Pathophysiology, Diagnosis, and Management.
Le HV, Wick JB, Van BW, Klineberg EO
J Am Acad Orthop Surg 2021 Dec 15;29(24):1044-1051. doi: 10.5435/JAAOS-D-20-01344. PMID: 34559699
Differences between diffuse idiopathic skeletal hyperostosis and spondyloarthritis.
Bieber A, Masala IF, Mader R, Atzeni F
Immunotherapy 2020 Jul;12(10):749-756. Epub 2020 Jun 22 doi: 10.2217/imt-2020-0045. PMID: 32571112
Diffuse idiopathic skeletal hyperostosis: Etiology and clinical relevance.
Kuperus JS, Mohamed Hoesein FAA, de Jong PA, Verlaan JJ
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101527. Epub 2020 May 23 doi: 10.1016/j.berh.2020.101527. PMID: 32456997
Imaging of axial spondyloarthritis. New aspects and differential diagnoses.
Braun J, Baraliakos X, Buehring B, Kiltz U, Fruth M
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):35-42. Epub 2018 Oct 1 PMID: 30296971

Therapy

Thoracic spondylotic myelopathy in diffuse idiopathic skeletal hyperostosis: a comparative study.
Dong Y, Li J, Yang K, Guo S, Zhai J, Zhao Y
J Orthop Surg Res 2023 Mar 25;18(1):242. doi: 10.1186/s13018-023-03723-7. PMID: 36966324Free PMC Article
Diffuse idiopathic skeletal hyperostosis of the cervical spine causing dysphagia and airway obstruction: an updated systematic review.
Harlianto NI, Kuperus JS, Mohamed Hoesein FAA, de Jong PA, de Ru JA, Öner FC, Verlaan JJ
Spine J 2022 Sep;22(9):1490-1503. Epub 2022 Mar 11 doi: 10.1016/j.spinee.2022.03.002. PMID: 35283294
Diagnosis of diffuse idiopathic skeletal hyperostosis with chest computed tomography: inter-observer agreement.
Oudkerk SF, de Jong PA, Attrach M, Luijkx T, Buckens CF, Mali WP, Oner FC, Resnick DL, Vliegenthart R, Verlaan JJ
Eur Radiol 2017 Jan;27(1):188-194. Epub 2016 Apr 20 doi: 10.1007/s00330-016-4355-x. PMID: 27097788Free PMC Article
The prevalence of diffuse idiopathic skeletal hyperostosis in Japan - the first report of measurement by CT and review of the literature.
Hirasawa A, Wakao N, Kamiya M, Takeuchi M, Kawanami K, Murotani K, Matsuo T, Deie M
J Orthop Sci 2016 May;21(3):287-90. Epub 2016 Mar 2 doi: 10.1016/j.jos.2016.02.001. PMID: 26948246
Metabolic arthropathies.
Timsit MA, Bardin T
Curr Opin Rheumatol 1994 Jul;6(4):448-53. doi: 10.1097/00002281-199407000-00017. PMID: 8068518

Prognosis

Complications of the Rigid Spine.
Vanhoenacker FM, Vanhoenacker C, Lalam R
Semin Musculoskelet Radiol 2023 Oct;27(5):491-498. Epub 2023 Oct 10 doi: 10.1055/s-0043-1770136. PMID: 37816357
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.
Kato H, Braddock DT, Ito N
Curr Osteoporos Rep 2023 Oct;21(5):552-566. Epub 2023 Aug 2 doi: 10.1007/s11914-023-00814-6. PMID: 37530996Free PMC Article
Criteria for Early-Phase Diffuse Idiopathic Skeletal Hyperostosis: Development and Validation.
Kuperus JS, Oudkerk SF, Foppen W, Mohamed Hoesein FA, Gielis WP, Waalwijk J, Regan EA, Lynch DA, Oner FC, de Jong PA, Verlaan JJ
Radiology 2019 May;291(2):420-426. Epub 2019 Apr 2 doi: 10.1148/radiol.2019181695. PMID: 30938626Free PMC Article
Imaging of axial spondyloarthritis. New aspects and differential diagnoses.
Braun J, Baraliakos X, Buehring B, Kiltz U, Fruth M
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):35-42. Epub 2018 Oct 1 PMID: 30296971
Classification criteria for diffuse idiopathic skeletal hyperostosis: a lack of consensus.
Kuperus JS, de Gendt EEA, Oner FC, de Jong PA, Buckens SCFM, van der Merwe AE, Maat GJR, Regan EA, Resnick DL, Mader R, Verlaan JJ
Rheumatology (Oxford) 2017 Jul 1;56(7):1123-1134. doi: 10.1093/rheumatology/kex056. PMID: 28371859

Clinical prediction guides

Complications of the Rigid Spine.
Vanhoenacker FM, Vanhoenacker C, Lalam R
Semin Musculoskelet Radiol 2023 Oct;27(5):491-498. Epub 2023 Oct 10 doi: 10.1055/s-0043-1770136. PMID: 37816357
Diffuse idiopathic skeletal hyperostosis of the cervical spine causing dysphagia and airway obstruction: an updated systematic review.
Harlianto NI, Kuperus JS, Mohamed Hoesein FAA, de Jong PA, de Ru JA, Öner FC, Verlaan JJ
Spine J 2022 Sep;22(9):1490-1503. Epub 2022 Mar 11 doi: 10.1016/j.spinee.2022.03.002. PMID: 35283294
Imaging of axial spondyloarthritis. New aspects and differential diagnoses.
Braun J, Baraliakos X, Buehring B, Kiltz U, Fruth M
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):35-42. Epub 2018 Oct 1 PMID: 30296971
Diagnosis of diffuse idiopathic skeletal hyperostosis with chest computed tomography: inter-observer agreement.
Oudkerk SF, de Jong PA, Attrach M, Luijkx T, Buckens CF, Mali WP, Oner FC, Resnick DL, Vliegenthart R, Verlaan JJ
Eur Radiol 2017 Jan;27(1):188-194. Epub 2016 Apr 20 doi: 10.1007/s00330-016-4355-x. PMID: 27097788Free PMC Article
Diffuse idiopathic skeletal hyperostosis: clinical features and pathogenic mechanisms.
Mader R, Verlaan JJ, Buskila D
Nat Rev Rheumatol 2013 Dec;9(12):741-50. Epub 2013 Nov 5 doi: 10.1038/nrrheum.2013.165. PMID: 24189840

Recent systematic reviews

Diffuse idiopathic skeletal hyperostosis of the cervical spine causing dysphagia and airway obstruction: an updated systematic review.
Harlianto NI, Kuperus JS, Mohamed Hoesein FAA, de Jong PA, de Ru JA, Öner FC, Verlaan JJ
Spine J 2022 Sep;22(9):1490-1503. Epub 2022 Mar 11 doi: 10.1016/j.spinee.2022.03.002. PMID: 35283294
Otolaryngologic manifestations of diffuse idiopathic skeletal hyperostosis (Forestier's disease): A systematic review of the literature.
Cherfane P, Smaily H, Khalaf MG, Ghaoui N, Melkane AE
Joint Bone Spine 2021 Dec;88(6):105218. Epub 2021 May 19 doi: 10.1016/j.jbspin.2021.105218. PMID: 34020047
Simultaneous occurrence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis: a systematic review.
Kuperus JS, Waalwijk JF, Regan EA, van der Horst-Bruinsma IE, Oner FC, de Jong PA, Verlaan JJ
Rheumatology (Oxford) 2018 Dec 1;57(12):2120-2128. doi: 10.1093/rheumatology/key211. PMID: 30060244
Classification criteria for diffuse idiopathic skeletal hyperostosis: a lack of consensus.
Kuperus JS, de Gendt EEA, Oner FC, de Jong PA, Buckens SCFM, van der Merwe AE, Maat GJR, Regan EA, Resnick DL, Mader R, Verlaan JJ
Rheumatology (Oxford) 2017 Jul 1;56(7):1123-1134. doi: 10.1093/rheumatology/kex056. PMID: 28371859
Diffuse idiopathic skeletal hyperostosis of the cervical spine: an underestimated cause of dysphagia and airway obstruction.
Verlaan JJ, Boswijk PF, de Ru JA, Dhert WJ, Oner FC
Spine J 2011 Nov;11(11):1058-67. Epub 2011 Oct 20 doi: 10.1016/j.spinee.2011.09.014. PMID: 22015236

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