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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.
 
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.
Vertebral hyperostosis
MedGen UID:
322334
Concept ID:
C1834057
Finding
Excessive growth of the bones of the vertebral bodies.

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

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
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
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

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
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
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
Vincent SA, Anderson PA
Semin Ultrasound CT MR 2018 Dec;39(6):618-629. Epub 2018 Oct 13 doi: 10.1053/j.sult.2018.10.001. PMID: 30527525
Saffo Z, Pulice P
J Am Osteopath Assoc 2017 Feb 1;117(2):138. doi: 10.7556/jaoa.2017.026. PMID: 28134957

Diagnosis

McGonagle D, David P, Macleod T, Watad A
Nat Rev Rheumatol 2023 Dec;19(12):818-827. Epub 2023 Nov 2 doi: 10.1038/s41584-023-01038-9. PMID: 37919337
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
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
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
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

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
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
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
Lubrano E, Parsons WJ, Marchesoni A, Olivieri I, D'Angelo S, Cauli A, Caso F, Costa L, Scarpa R, Brunese L
J Rheumatol Suppl 2015 Nov;93:40-2. doi: 10.3899/jrheum.150634. PMID: 26523055
Timsit MA, Bardin T
Curr Opin Rheumatol 1994 Jul;6(4):448-53. doi: 10.1097/00002281-199407000-00017. PMID: 8068518

Prognosis

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
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
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
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
Saffo Z, Pulice P
J Am Osteopath Assoc 2017 Feb 1;117(2):138. doi: 10.7556/jaoa.2017.026. PMID: 28134957

Clinical prediction guides

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
Ciaffi J, Borlandelli E, Visani G, Facchini G, Miceli M, Ruscitti P, Cipriani P, Giacomelli R, Ursini F
Radiol Med 2022 Oct;127(10):1159-1169. Epub 2022 Sep 4 doi: 10.1007/s11547-022-01545-x. PMID: 36057932Free PMC Article
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
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
Timsit MA, Bardin T
Curr Opin Rheumatol 1994 Jul;6(4):448-53. doi: 10.1097/00002281-199407000-00017. PMID: 8068518

Recent systematic reviews

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
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
Gendreau JL, Sheaffer K, Bennett J, Abraham M, Patel NV, Herschman Y, Ruh N, Lindley JG
Clin Spine Surg 2021 Jul 1;34(6):220-227. doi: 10.1097/BSD.0000000000001105. PMID: 33239502
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
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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