Vascular changes in the periosteum of congenital pseudarthrosis of the tibia

Hermanns-Sachweh, Benita; Senderek, Jan; Alfer, Joachim; Klosterhalfen, B.; Büttner, Reinhard; Füzesi, L.; Weber, Michael H.

doi:10.1016/j.prp.2004.09.013

Cited by 64 publications

(54 citation statements)

References 24 publications

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“…During the past 100 years, a number of theories have been suggested to explain the development of the disease. Pathologic changes in the periosteum are one factor that could explain the pathologic changes in congenital pseudarthrosis of the tibia [17]. Codivilla [8] was the first to suggest the use of osteoperiosteal grafting from the sound tibia to provide all the tissues involved in the formation and growth of bone, especially the periosteum.…”

Section: Discussionmentioning

confidence: 99%

“…Grill et al [16] 108* Crawford [9] Type I (6) Type II (17) Type III (19) Type IV (18) 7.36 (1. Boero et al [3] 21 Cystic (4) Hourglass (11) Normotrophic (1) Sclerotic (5) 8.8 (1.3-17) Minimum 2-year followup 6.3 cm (0-19 cm)…”

Section: Npmentioning

confidence: 99%

“…1.2 (1-1.5) Paley et al [33] 15 (16) Andersen [1] Cystic (3) Sclerotic (4) Dysplastic (9) 8 (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17) 4 (2-7)…”

Section: Introductionmentioning

confidence: 99%

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Periosteal Grafting for Congenital Pseudarthrosis of the Tibia: A Preliminary Report

Thabet

Paley

Kocaoğlu

et al. 2008

Clinical Orthopaedics &Amp; Related Research

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The results of treatment of congenital pseudarthrosis of the tibia (CPT) are frequently unsatisfactory because of the need for multiple operations for recalcitrant nonunion, residual deformities, and limb-length discrepancies (LLD). Although the etiology of CPT is basically unknown, recent reports suggest the periosteum is the primary site for the pathologic processes in CPT. We hypothesized complete excision of the diseased periosteum and the application of a combined approach including free periosteal grafting, bone grafting, and intramedullary (IM) nailing of both the tibia and fibula combined with Ilizarov fixation would improve union rates and reduce refracture rates. We retrospectively reviewed 20 patients at two centers. The minimum followup was 2 years (mean, 4.3 years; range, 2-10

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Section: Discussionmentioning

confidence: 99%

Section: Npmentioning

confidence: 99%

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Periosteal Grafting for Congenital Pseudarthrosis of the Tibia: A Preliminary Report

Thabet

Paley

Kocaoğlu

et al. 2008

Clinical Orthopaedics &Amp; Related Research

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“…A more recent histochemical and immunohistochemical study revealed that fibrous hamartoma was composed of an undifferentiated type of membranous tissue having the potential to differentiate into several lines of mesenchymally derived tissues 5 . On the other hand, impaired blood circulation by the constricting fibrous hamartoma 6 or by the accumulation of nerve cells surrounding small arteries 7 was also suggested as a pathogenic mechanism of congenital pseudarthrosis of the tibia. However, the cells composing fibrous hamartoma have not been fully characterized in terms of osteogenicity and osteoclastogenic potential.…”

mentioning

confidence: 99%

Biologic Characteristics of Fibrous Hamartoma from Congenital Pseudarthrosis of the Tibia Associated with Neurofibromatosis Type 1

Cho

Seo

Lee

et al. 2008

The Journal of Bone and Joint Surgery-American Volume

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“…Consecutive bone healing is usually insufficient, resulting in the development of pseudarthrosis with fibrous tissue. This fibrous tissue in the region of pseudarthrosis is also known as fibrous hamartoma [5], in continuity with abnormal periosteal thickening observed in histological studies [6]. A majority of the cells of this hamartoma have been identified as fibroblasts [7].…”

Section: Introductionmentioning

confidence: 86%

Identification of One <em>BOCR</em> Mutation and Five <em>NF1</em> Mutations in Male Patients with Neurofibromatosis Type 1 and Congenital Pseudarthrosis of the Tibia

Zhou¹,

Zeng

et al. 2016

Preprint

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Neurofibromatosis type1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1gene. Although congenital pseudarthrosis of the tibia (CPT) has frequently been associated with NF1, the underlying molecular mechanism of CPT in these NF1 patients is yet ill-understood. The aim of the present study was to detect NF1 mutations from genomic DNA and to harbor variants associated with CPT in NF1 patients. Whole-exome sequencing was first carried out with samples from two patients with CPT in one NF1 family, and a novel mutation c.2324A>G (p.E775G) in NF1 gene was identified. Additionally, a missense variant c.455C>T (p.P152L) in BCOR gene completely co-segregated with the CPT phenotype within this family. Subsequently, NF1 and NF2 genes in four other unrelated patients with both NF1 and CPT were screened using targeted sequencing. Four mutations in NF1 gene, including two known mutations (c.2288T>C/p.L763P, c.574 C>T/p.R192*) and two novel mutations (c.768delT/p.F256Lfs*25, c.2229_2230delTG/ p.V744Qfs*23) were detected. Further study confirmed that CPT was present in NF1 families, and NF1 mutations were closely associated with these complex phenotypes. Moreover, the data from the current study indicated that male gender might be a susceptibility factor for CPT in NF1. Therefore, we speculated that BCOR variants might be related to CPT phenotype among male NF1 patients.

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Vascular changes in the periosteum of congenital pseudarthrosis of the tibia

Cited by 64 publications

References 24 publications

Periosteal Grafting for Congenital Pseudarthrosis of the Tibia: A Preliminary Report

Periosteal Grafting for Congenital Pseudarthrosis of the Tibia: A Preliminary Report

Biologic Characteristics of Fibrous Hamartoma from Congenital Pseudarthrosis of the Tibia Associated with Neurofibromatosis Type 1

Identification of One <em>BOCR</em> Mutation and Five <em>NF1</em> Mutations in Male Patients with Neurofibromatosis Type 1 and Congenital Pseudarthrosis of the Tibia

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