Neurofibromatosis type 1 (NF1) is a common dominantly inherited disease. More than half of NF1 patients suffer from skeletal manifestations, of which congenital pseudarthrosis of tibia (CPT) is one of the most incapacitating lesions. Two NF1 patients with CPT were operated, and the resected tissues were analyzed using immunohistochemistry and/or in situ hybridization for NF1 protein and mRNA, p-p44/42 MAPK, and S100 protein. Both patients displayed thick-walled arteries and veins with a small lumen within the fibrotic tissue in the vicinity of pseudarthrosis. Endothelial cells were highly positive for p-p44/42 MAPK. A subpopulation of cells surrounding the blood vessels was S100 protein-positive. However, the exact identity of the S100-positive cells remains to be elucidated. Neurofibromin mRNA and protein labeling was detected in both cell types. In conclusion, decreased NF1 function as a RAS-GAP in the endothelium may contribute to vascular thickening in CPT.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.prp.2006.03.006 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report.
J Med Case Rep
January 2025
Department of Orthopaedics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Background: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation.
View Article and Find Full Text PDFSurgical treatment of congenital pseudarthrosis of the Tibia in children: CPAM-LRC consensus and guidelines.
Int J Surg
January 2025
Department of Orthopedics, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: Congenital pseudarthrosis of the tibia (CPT) is a rare condition typically manifesting within the first decade of life. The primary objectives of surgical intervention for CPT include achieving long-term bony union of the tibia, preventing or minimizing limb length discrepancies (LLD), avoiding mechanical axis deviations of the tibia and adjacent joints, and preventing refracture. This study aims to conduct a systematic review of current treatment methods for CPT to determine the most effective non-surgical and surgical management strategies for pediatric patients with this condition.
View Article and Find Full Text PDFEfficacy of the cross-union protocol in the treatment of congenital tibial pseudarthrosis: a comparative study.
BMC Musculoskelet Disord
January 2025
Department of Orthopaedics Surgery, National Children's Medical Center & Children's Hospital of Fudan University, Wanyuan Road 399, Minhang District, Shanghai, 201102, China.
Background: Congenital Pseudarthrosis of the Tibia (CPT) is a rare pediatric condition presenting substantial challenges for orthopedic surgeons. Aiming to achieve bone union, with subsequent complications such as refractures being common. The aim of the present study is to evaluate the results of our intentional cross-union protocol and to compare these outcomes with those obtained from our previously used techniques.
View Article and Find Full Text PDFPaley cross union protocol for congenital pseudoarthrosis of the tibia.
Med Glas (Zenica)
September 2024
Orthopaedics and Traumatology Department, Faculty of Medicine Universitas Brawijaya - Saiful Anwar General Hospital, Malang, East Java, Indonesia.
Aim: Congenital pseudarthrosis of the tibia (CPT) is a rare, dysplastic condition causing significant disability in the lower limbs. A treatment aims to achieve long-lasting union, prevent limb length discrepancies, and prevent soft tissue lesions. Traditional surgery often yields satisfactory results, but amputation may be proposed in failed cases.
View Article and Find Full Text PDFCongenital Pseudoarthrosis of the Clavicle in a Softball Player.
J Am Acad Orthop Surg Glob Res Rev
November 2024
From the College of Medicine, University of Florida, Gainesville, FL (Mr. Root), and the Department of Orthopaedics and Sports Medicine, University of Florida, Gainesville, FL (Dr. Hones and Dr. Farmer).
Article Synopsis
- Congenital pseudarthrosis of the clavicle is a rare condition with an unclear cause, but orthopedic surgeons should recognize and effectively treat it.
- A 15-year-old female softball player experienced shoulder pain with no prior injury and was diagnosed with this condition.
- After conservative treatment failed, she underwent surgery involving open reduction and internal fixation using a bone graft for better outcomes.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!