Neurocutaneous syndromes comprise a heterogeneous group of congenital or hereditary conditions that are known to be associated with the risk of different disorders and complications. Two of the most common neurocutaneous syndromes are Neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC). Although there appears to be a general consensus on the importance of a multidisciplinary approach in managing these cases, there is still very little emphasis in discussions addressed in the literature on the role of dentistry in accordance with the perspective of comprehensive care. Evidence-based propositions, together with a broad discussion of new insights in this regard, should have the ability to strongly impact related future perspectives, aiming for greater advances and better outcomes for these patients. In this review article, the authors discuss updated general aspects of NF1 and TSC, and the potential additional roles of dentistry, in addition to addressing suggestions for actions in dentistry at related levels of care, as well as priorities for future research.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10881307 | PMC |
| http://dx.doi.org/10.1016/j.clinsp.2024.100332 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
TSC complex decrease the expression of mTOR by regulated miR-199b-3p.
Sci Rep
January 2025
Key Laboratory of Chemical Biology and Molecular Engineering of National Ministry of Education, Institutes of Biomedical Sciences, Shanxi University, Taiyuan, 030006, China.
The TSC complex formed by TSC1 and TSC2 is the most important upstream negative regulator of mTORC1. Genetic variations in either TSC1 or TSC2 cause tuberous sclerosis complex (TSC) disease which is a rare autosomal dominant disorder resulting in impairment of multiple organ systems. In this study, besides a reported variation, c.
View Article and Find Full Text PDFDiagnosis and treatment of pediatric arterial stenosis associated with neurofibromatosis type 1.
BMC Pediatr
January 2025
Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.
View Article and Find Full Text PDFHydroxychloroquine prevents resistance and potentiates the antitumor effect of SHP2 inhibition in NF1-associated malignant peripheral nerve sheath tumors.
Proc Natl Acad Sci U S A
January 2025
Cancer Biology & Genetics Program, Sloan Kettering Institute, New York, NY 10065.
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas and the primary cause of mortality in patients with neurofibromatosis type 1 (NF1). These malignancies develop within preexisting benign lesions called plexiform neurofibromas (PNs). PNs are solely driven by biallelic loss eliciting RAS pathway activation, and they respond favorably to MEK inhibitor therapy.
View Article and Find Full Text PDFSuccessful Long-Term Management of NF1 Congenital Tibial Dysplasia with Prophylactic Bypass Graft and Bracing: A Case Report.
JBJS Case Connect
October 2024
Department of Orthopaedics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Case: An 8-year-old girl with NF1 and congenital tibial dysplasia with significant bilateral tibial bowing underwent McFarland procedures. Now age 22 with 14-year follow-up indicating sustained correction and healing of her bilateral limb deformities.
Conclusion: This case illustrates the McFarland procedure provided adequate corrective treatment of this deformity and remains a success at long-term follow-up.
Oral Herpes Simplex Virus Mimicking Tongue Squamous cell Carcinoma in Von Hippel-Lindau Patient: A Case Image.
Head Neck Pathol
January 2025
Department of Otolaryngology - Head and Neck Surgery, Harvard Medical School, Boston, MA, USA.
We present the case of a 51-year-old man with Von Hippel-Lindau disease and a history of renal transplantation who developed a persistent, painful tongue lesion with episodes of significant swelling. Given his history of prolonged immunosuppression and elevated cancer risk, oral squamous cell carcinoma was a major concern. However, histopathological evaluation confirmed recrudescent herpes simplex virus (HSV) infection rather than malignancy.
View Article and Find Full Text PDFWant 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!