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Pseudoarthrosis

MedGen UID:
46175
Concept ID:
C0033785
Finding; Pathologic Function
Synonyms: Pseudarthroses; Pseudarthrosis; Pseudoarthroses
SNOMED CT: Fibrous nonunion (31511007); Nearthrosis - disorder (31511007); Pseudoarthrosis (410818009); Pseudarthrosis (410818009); Pseudoarthrosis (31511007); Nearthrosis (31511007); Neoarthrosis (31511007)
 
HPO: HP:0005864

Definition

A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint"). [from HPO]

Conditions with this feature

Osteoglophonic dysplasia
MedGen UID:
96592
Concept ID:
C0432283
Congenital Abnormality
Osteoglophonic dysplasia (OGD) is characterized by rhizomelic dwarfism, nonossifying bone lesions, craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge (summary by White et al., 2005).
Osteofibrous dysplasia
MedGen UID:
895748
Concept ID:
C4085248
Finding
Osteofibrous dysplasia (OSFD) is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by Hunter and Jarvis, 2002). OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation; the residuum is most commonly mild bowing at the affected site. Prior to their resolution, secondary complications such as nonunion fractures and pseudoarthrosis formation can occur. Histologically, OSFD lesions exhibit 'zonal architecture' characterized by spindle-shaped fibroblast-like cells in the center of the lesions that are progressively replaced with peripherally located, more differentiated cells from the osteoblastic lineage. The cells lying at the center of the lesions stain for markers of undifferentiated mesenchymal cell states, whereas bridging zones of osteoid with surface osteoblasts and embedded osteocytic cells are interspersed between the lesions. In OSFD, the unossified zones eventually mineralize after replacement with normal osteoid and, finally, bone. This histologic progression corresponds with the clinical and radiographic resolution of the lesions (summary by Gray et al., 2015). Hunter and Jarvis (2002) noted that there may be a relationship between osteofibrous dysplasia and adamantinoma of long bones (102660), although the latter condition usually presents at a later age.
Ophthalmoplegia, external, with rib and vertebral anomalies
MedGen UID:
1648445
Concept ID:
C4748418
Disease or Syndrome
External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies (Di Gioia et al., 2018).
Osteogenesis imperfecta, IIA 22
MedGen UID:
1801631
Concept ID:
C5676943
Disease or Syndrome
Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020).

Professional guidelines

PubMed

Hariharan AR, Shah SA, Petfield J, Baldwin M, Yaszay B, Newton PO, Lenke LG, Lonner BS, Miyanji F, Sponseller PD, Samdani AF; Harms Study Group
Spine Deform 2022 Sep;10(5):1097-1105. Epub 2022 Apr 30 doi: 10.1007/s43390-022-00508-6. PMID: 35488969
Kwok IHY, Ieong E, Aljalahma MA, Haldar A, Welck M
Foot (Edinb) 2022 May;51:101889. Epub 2021 Dec 10 doi: 10.1016/j.foot.2021.101889. PMID: 35255399
Engelmann EWM, Wijers O, Posthuma JJ, Schepers T
Injury 2020 Nov;51(11):2414-2420. Epub 2020 Sep 16 doi: 10.1016/j.injury.2020.09.030. PMID: 32972722

Recent clinical studies

Etiology

Basso MA, Smeraglia F, Ocampos-Hernandez M, Balato G, Bernasconi A, Corella-Montoya F
Acta Biomed 2023 Oct 17;94(5):e2023194. doi: 10.23750/abm.v94i5.14646. PMID: 37850769Free PMC Article
Zileli M
Acta Neurochir Suppl 2023;130:141-156. doi: 10.1007/978-3-030-12887-6_18. PMID: 37548734
Callanan G, Radcliff KE
Neurosurg Clin N Am 2021 Oct;32(4):461-472. Epub 2021 Jul 29 doi: 10.1016/j.nec.2021.05.007. PMID: 34538472
Calderazzi F, Nosenzo A, Galavotti C, Menozzi M, Pogliacomi F, Ceccarelli F
Acta Biomed 2018 Nov 15;89(4):470-476. doi: 10.23750/abm.v89i4.7632. PMID: 30657114Free PMC Article
DE LA Garza-Ramos R, Bydon M, Macki M, Abt NB, Rhee J, Gokaslan ZL, Bydon A
J Neurosurg Sci 2017 Feb;61(1):64-76. Epub 2015 Apr 15 doi: 10.23736/S0390-5616.16.03302-6. PMID: 25875732

Diagnosis

Ambatkar SY, Rudey MD
Pan Afr Med J 2023;44:112. Epub 2023 Mar 1 doi: 10.11604/pamj.2023.44.112.39077. PMID: 37275298Free PMC Article
Benson JC, Lehman VT, Sebastian AS, Larson NA, Nassr A, Diehn FE, Wald JT, Murthy NS
Neuroradiology 2022 Sep;64(9):1719-1728. Epub 2022 Jun 14 doi: 10.1007/s00234-022-02992-z. PMID: 35701631
Gnanasegaran G, Paycha F, Strobel K, van der Bruggen W, Kampen WU, Kuwert T, Van den Wyngaert T
Semin Nucl Med 2018 Sep;48(5):410-424. Epub 2018 Jul 2 doi: 10.1053/j.semnuclmed.2018.06.003. PMID: 30193648
Canavese F, Samba A, Rousset M
Orthop Traumatol Surg Res 2016 Feb;102(1 Suppl):S149-59. Epub 2016 Jan 7 doi: 10.1016/j.otsr.2015.05.010. PMID: 26774903
Jain VK
Neurol India 2012 Jan-Feb;60(1):9-17. doi: 10.4103/0028-3886.93582. PMID: 22406773

Therapy

Keum BR, Kim HJ, Kim GH, Chang DG
Int J Mol Sci 2023 Dec 11;24(24) doi: 10.3390/ijms242417365. PMID: 38139194Free PMC Article
Basso MA, Smeraglia F, Ocampos-Hernandez M, Balato G, Bernasconi A, Corella-Montoya F
Acta Biomed 2023 Oct 17;94(5):e2023194. doi: 10.23750/abm.v94i5.14646. PMID: 37850769Free PMC Article
Callanan G, Radcliff KE
Neurosurg Clin N Am 2021 Oct;32(4):461-472. Epub 2021 Jul 29 doi: 10.1016/j.nec.2021.05.007. PMID: 34538472
DE LA Garza-Ramos R, Bydon M, Macki M, Abt NB, Rhee J, Gokaslan ZL, Bydon A
J Neurosurg Sci 2017 Feb;61(1):64-76. Epub 2015 Apr 15 doi: 10.23736/S0390-5616.16.03302-6. PMID: 25875732
Gonugunta V, Krishnaney AA, Benzel EC
Neurol India 2005 Dec;53(4):424-32. doi: 10.4103/0028-3886.22608. PMID: 16565533

Prognosis

So E, Wilson MD, Chu AK, Prissel MA
J Foot Ankle Surg 2018 Jul-Aug;57(4):776-780. Epub 2018 May 11 doi: 10.1053/j.jfas.2018.01.002. PMID: 29759927
Canavese F, Samba A, Rousset M
Orthop Traumatol Surg Res 2016 Feb;102(1 Suppl):S149-59. Epub 2016 Jan 7 doi: 10.1016/j.otsr.2015.05.010. PMID: 26774903
Pannier S
Orthop Traumatol Surg Res 2011 Nov;97(7):750-61. Epub 2011 Oct 12 doi: 10.1016/j.otsr.2011.09.001. PMID: 21996526
Forrester DM
Semin Ultrasound CT MR 2004 Dec;25(6):461-73. doi: 10.1053/j.sult.2004.09.003. PMID: 15663317
Heller JG, Silcox DH 3rd, Sutterlin CE 3rd
Spine (Phila Pa 1976) 1995 Nov 15;20(22):2442-8. doi: 10.1097/00007632-199511001-00013. PMID: 8578396

Clinical prediction guides

Basso MA, Smeraglia F, Ocampos-Hernandez M, Balato G, Bernasconi A, Corella-Montoya F
Acta Biomed 2023 Oct 17;94(5):e2023194. doi: 10.23750/abm.v94i5.14646. PMID: 37850769Free PMC Article
Dupré DA, Cheng B, Kreft R, Nistico L, Ehrlich GD, Averick S, Altman DT
Genet Test Mol Biomarkers 2022 Jul-Aug;26(7-8):375-381. doi: 10.1089/gtmb.2022.0026. PMID: 36027038
Liu G, Tan JH, Tan J, Ng JH, Chua J, Chan YH, Riew KD
Clin Spine Surg 2022 Jun 1;35(5):E473-E477. Epub 2021 Dec 15 doi: 10.1097/BSD.0000000000001285. PMID: 34907932
Kersten RF, van Gaalen SM, de Gast A, Öner FC
Spine J 2015 Jun 1;15(6):1446-60. Epub 2013 Dec 27 doi: 10.1016/j.spinee.2013.08.030. PMID: 24374100
Gonugunta V, Krishnaney AA, Benzel EC
Neurol India 2005 Dec;53(4):424-32. doi: 10.4103/0028-3886.22608. PMID: 16565533

Recent systematic reviews

Basso MA, Smeraglia F, Ocampos-Hernandez M, Balato G, Bernasconi A, Corella-Montoya F
Acta Biomed 2023 Oct 17;94(5):e2023194. doi: 10.23750/abm.v94i5.14646. PMID: 37850769Free PMC Article
Assouto C, Bertoncelli CM, Gauci MO, Monticone M, Bagui S, Rampal V, Solla F
Int Orthop 2022 Nov;46(11):2577-2583. Epub 2022 Jun 15 doi: 10.1007/s00264-022-05470-6. PMID: 35701591
Tan JHI, Tan SHS, Rajoo MS, Lim AKS, Hui JH
Orthop Traumatol Surg Res 2022 Jun;108(4):103283. Epub 2022 Apr 22 doi: 10.1016/j.otsr.2022.103283. PMID: 35470119
Radcliff KE, Neusner AD, Millhouse PW, Harrop JD, Kepler CK, Rasouli MR, Albert TJ, Vaccaro AR
Spine J 2015 Feb 1;15(2):336-47. Epub 2014 Sep 28 doi: 10.1016/j.spinee.2014.09.022. PMID: 25264181
Kersten RF, van Gaalen SM, de Gast A, Öner FC
Spine J 2015 Jun 1;15(6):1446-60. Epub 2013 Dec 27 doi: 10.1016/j.spinee.2013.08.030. PMID: 24374100

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