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Osteosclerosis of the base of the skull

MedGen UID:
867264
Concept ID:
C4021624
Finding
Synonym: Osteosclerosis of base of skull
 
HPO: HP:0005746

Definition

An increase in bone density affecting the basicranium (base of the skull). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteosclerosis of the base of the skull

Conditions with this feature

Hyperostosis cranialis interna
MedGen UID:
327093
Concept ID:
C1840404
Disease or Syndrome
Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
MedGen UID:
355875
Concept ID:
C1864942
Disease or Syndrome
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.

Recent clinical studies

Etiology

Nakagawa J, Fujima N, Hirata K, Harada T, Wakabayashi N, Takano Y, Homma A, Kano S, Minowa K, Kudo K
Jpn J Radiol 2024 May;42(5):450-459. Epub 2024 Jan 27 doi: 10.1007/s11604-023-01527-7. PMID: 38280100Free PMC Article
Uludağ Alkaya D, Akpınar E, Bilguvar K, Tüysüz B
Am J Med Genet A 2021 Jul;185(7):2271-2277. Epub 2021 Apr 10 doi: 10.1002/ajmg.a.62198. PMID: 33837634
Seda M, Peskett E, Demetriou C, Bryant D, Moore GE, Stanier P, Jenkins D
F1000Res 2019;8:273. Epub 2019 Mar 11 doi: 10.12688/f1000research.17314.1. PMID: 31231513Free PMC Article
Krithika C, Neelakandan RS, Sivapathasundaram B, Koteeswaran D, Rajaram PC, Shetkar GS
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009 Sep;108(3):e56-65. doi: 10.1016/j.tripleo.2009.05.010. PMID: 19716493
Curé JK, Key LL, Goltra DD, VanTassel P
AJNR Am J Neuroradiol 2000 Jun-Jul;21(6):1110-5. PMID: 10871023Free PMC Article

Diagnosis

Nakagawa J, Fujima N, Hirata K, Harada T, Wakabayashi N, Takano Y, Homma A, Kano S, Minowa K, Kudo K
Jpn J Radiol 2024 May;42(5):450-459. Epub 2024 Jan 27 doi: 10.1007/s11604-023-01527-7. PMID: 38280100Free PMC Article
Stella I, Vinchon M, Guerreschi P, De Berranger E, Bouacha I
Childs Nerv Syst 2017 Dec;33(12):2181-2186. Epub 2017 Jul 31 doi: 10.1007/s00381-017-3553-4. PMID: 28762040
Ullah A, Pervez N, Khan SR, Ishfaq M, Liaqat S
J Coll Physicians Surg Pak 2015 Oct;25 Suppl 2:S127-9. doi: 10.2015/JCPSP.S127S129. PMID: 26522199
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B
Eur J Med Genet 2014 Sep;57(9):536-42. Epub 2014 Jul 12 doi: 10.1016/j.ejmg.2014.07.001. PMID: 25019372
Loevner LA
Semin Roentgenol 1999 Apr;34(2):84-101. doi: 10.1016/s0037-198x(99)80024-8. PMID: 10231905

Therapy

Ullah A, Pervez N, Khan SR, Ishfaq M, Liaqat S
J Coll Physicians Surg Pak 2015 Oct;25 Suppl 2:S127-9. doi: 10.2015/JCPSP.S127S129. PMID: 26522199
Waterval JJ, Stokroos RJ, Dings J, Van Overbeeke JJ, Manni JJ
Clin Neurol Neurosurg 2011 Dec;113(10):904-8. Epub 2011 Jun 12 doi: 10.1016/j.clineuro.2011.05.005. PMID: 21665359
Paravati AJ, Heron DE, Gardner PA, Snyderman C, Ozhasoglu C, Quinn A, Burton SA, Seelman K, Mintz AH
Technol Cancer Res Treat 2010 Oct;9(5):489-98. doi: 10.1177/153303461000900507. PMID: 20815420
Krithika C, Neelakandan RS, Sivapathasundaram B, Koteeswaran D, Rajaram PC, Shetkar GS
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009 Sep;108(3):e56-65. doi: 10.1016/j.tripleo.2009.05.010. PMID: 19716493
Fujita Y, Nakata K, Yasui N, Matsui Y, Kataoka E, Hiroshima K, Shiba RI, Ochi T
J Clin Endocrinol Metab 2000 Jan;85(1):425-31. doi: 10.1210/jcem.85.1.6247. PMID: 10634420

Prognosis

Stella I, Vinchon M, Guerreschi P, De Berranger E, Bouacha I
Childs Nerv Syst 2017 Dec;33(12):2181-2186. Epub 2017 Jul 31 doi: 10.1007/s00381-017-3553-4. PMID: 28762040
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B
Eur J Med Genet 2014 Sep;57(9):536-42. Epub 2014 Jul 12 doi: 10.1016/j.ejmg.2014.07.001. PMID: 25019372
Waterval JJ, Borra VM, Van Hul W, Stokroos RJ, Manni JJ
Bone 2014 Mar;60:48-67. Epub 2013 Dec 8 doi: 10.1016/j.bone.2013.12.003. PMID: 24325978
Waterval JJ, Bischoff MP, Stokroos RJ, Anteunis LJ, Hilkman DM, Kingma H, Manni JJ
Clin Neurol Neurosurg 2013 Sep;115(9):1701-8. Epub 2013 Apr 23 doi: 10.1016/j.clineuro.2013.03.008. PMID: 23622937
Waterval JJ, Van Dongen TM, Stokroos RJ, Teule JG, Kemerink GJ, Brans B, Nieman FH, Manni JJ
Eur J Nucl Med Mol Imaging 2011 May;38(5):884-93. Epub 2010 Nov 16 doi: 10.1007/s00259-010-1655-2. PMID: 21079950Free PMC Article

Clinical prediction guides

Uludağ Alkaya D, Akpınar E, Bilguvar K, Tüysüz B
Am J Med Genet A 2021 Jul;185(7):2271-2277. Epub 2021 Apr 10 doi: 10.1002/ajmg.a.62198. PMID: 33837634
Ladd LM, Imel EA, Niziolek PJ, Liu Z, Warden SJ, Liang Y, Econs MJ
Skeletal Radiol 2021 May;50(5):903-913. Epub 2020 Oct 3 doi: 10.1007/s00256-020-03625-3. PMID: 33009917Free PMC Article
Seda M, Peskett E, Demetriou C, Bryant D, Moore GE, Stanier P, Jenkins D
F1000Res 2019;8:273. Epub 2019 Mar 11 doi: 10.12688/f1000research.17314.1. PMID: 31231513Free PMC Article
Stella I, Vinchon M, Guerreschi P, De Berranger E, Bouacha I
Childs Nerv Syst 2017 Dec;33(12):2181-2186. Epub 2017 Jul 31 doi: 10.1007/s00381-017-3553-4. PMID: 28762040
Borra VM, Waterval JJ, Stokroos RJ, Manni JJ, Van Hul W
Calcif Tissue Int 2013 Jul;93(1):93-100. Epub 2013 May 3 doi: 10.1007/s00223-013-9732-8. PMID: 23640157

Recent systematic reviews

Zicari AM, Tarani L, Perotti D, Papetti L, Nicita F, Liberati N, Spalice A, Salvatori G, Guaraldi F, Duse M
Ital J Pediatr 2012 Jun 20;38:27. doi: 10.1186/1824-7288-38-27. PMID: 22716240Free PMC Article

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