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J Med Case Rep 2022 May 1;16(1):174. Epub 2022 May 1.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

Background: Neurofibromatosis type 1 is an inherited cancer predisposition syndrome that is caused by a mutation in the NF1 gene that encodes neurofibromin. Patients with neurofibromatosis type 1 have a higher risk of gastrointestinal stromal tumor. This study reports the case of a patient with gastrointestinal stromal tumor who was later diagnosed to have neurofibromatosis type 1 and, unlike usual features, had some uncommon features such as occurrence at an early age and unusual site of origin. Read More

Anticancer Res 2022 May;42(5):2607-2623

Department of Orthodontics, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Background/aim: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that is also characterized by skeletal abnormalities. In the cranial region, skeletal dysplasia is observed that is associated with a characteristic peripheral nerve sheath tumor, the plexiform neurofibroma (PNF). The aim of the study was to determine PNF-associated skeletal asymmetries of the mid-skull and skull base as an indicator of local tumor development. Read More

Anticancer Res 2022 May;42(5):2327-2340

Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Aim: To characterize the growth pattern and antigen profile of peripheral nerve sheaths tumors (PNST) in a large series of tumors obtained from patients with neurofibromatosis type 1 (NF1).

Materials And Methods: Tissue micro-array technique was applied to study 520 PNSTs of 385 patients with NF1 by immunohistochemistry for human epidermal growth factor receptors erb-b2 receptor tyrosine kinase 2 (ERBB2) and ERBB3, CD44, neuroregulin (NRG1) and proliferation index by Ki-67. PNSTs were classified as cutaneous neurofibroma (CNF) in 114 cases, diffuse neurofibroma (DNF) in 109, diffuse plexiform neurofibroma (DPNF) in 108, plexiform neurofibroma (PNF) in 110, and malignant PNST (MPNST) in 22. Read More

J Oral Maxillofac Pathol 2022 Feb 28;26(Suppl 1):S96-S102. Epub 2022 Feb 28.

Department of Surgery, Gujarat Surgical Hospital, Vadodara, Gujarat, India.

Tumors of the parapharyngeal space (PPS) are extremely rare inpediatric age group. Out of all head-and-neck neoplasms, PPS tumors comprise only 0.5%. Read More

Int J Surg Case Rep 2022 Apr 13;94:107086. Epub 2022 Apr 13.

Department of Surgery, Stomatology, Pathology and Radiology, Area of Pathology, Bauru School of Dentistry, University of São Paulo, Brazil. Electronic address:

Introduction: The subgemmal neurogenous plaque is a well-defined subepithelial neural plexus associated with taste buds, located within foliate, fungiform, and circumvallate papillae of the human tongue, that is poorly known by dentists and medical professionals. The hyperplasia of subgemmal neurogenous plaque may occur and it manifests as a papule, nodule, plaque, or ulcer in the lateral posterior border of the tongue inducing the overdiagnosis of reactive, cystic, or neoplastic lesions. The aims of this study are to report a case of a patient with subgemmal neurogenous plaque, and to provide a comprehensive review of other subgemmal neurogenous plaque in the posterolateral tongue with challenging diagnosis. Read More

Pediatr Blood Cancer 2022 Mar 15:e29633. Epub 2022 Mar 15.

Division of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.

Neurofibromatosis type 1-associated plexiform neurofibromas can cause debilitating symptoms and be life threatening. Treatment options are limited, given their tendency to regrow following surgery and their propensity to transform into malignant tumours following radiation. Selumetinib is an oral selective inhibitor of RAS-mitogen-activated protein kinase (MAPK) 1 and 2, which has shown efficacy for tumour shrinkage/stabilisation and symptom improvement. Read More

Ann Maxillofac Surg 2021 Jul-Dec;11(2):336-339. Epub 2022 Feb 1.

Department of Oral and Maxillofacial Surgery, Rambam Health Care Campus, Haifa, Israel.

Rationale: Neurofibroma (NF) is the most common benign peripheral nerve sheath tumour that most often occurs as a solitary tumour. A clinical and imaging diagnosis may be challenging since no distinctive features are unique for this lesion. Solitary NFs are treated by complete resection that may sometimes require a nerve sacrifice, ending with a neurological deficit. Read More

Orphanet J Rare Dis 2022 03 2;17(1):93. Epub 2022 Mar 2.

Department of Dentistry, National Taiwan University Hospital, Taipei, Taiwan, ROC.

Introduction: Most craniofacial manifestations of neurofibromatosis type 1 (NF1) are considered as a result of tumor compression. We sought to determine salivary changes, caries, and periodontal complications in NF1 patients without tumors in the oral cavity.

Objective And Methods: Eleven NF1 patients without tumors in the oral cavity and 29 matched controls without NF1 were enrolled in this case-control study. Read More

Anticancer Res 2022 Mar;42(3):1247-1261

Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Background/aim: The aim of the present investigation was to characterize the growth pattern and antigen profile of peripheral nerve sheath tumors (PNST) in a large series of tumors obtained from patients with Neurofibromatosis type 1 (NF1) focusing on morphological characteristics of diffuse plexiform neurofibroma (DPNF).

Materials And Methods: Tissue micro-array (TMA) analysis was applied to study 520 formalin-fixed, paraffin-embedded human PNST of 385 patients with confirmed NF1 diagnosis. PNST originated from all areas of the body and were classified as cutaneous neurofibroma (CNF, n=114), diffuse neurofibroma (DNF, n=109), DPNF (n=108), plexiform neurofibroma (PNF, n=110), and malignant peripheral nerve sheath tumor (MPNST, n=22). Read More

Curr Pain Headache Rep 2022 Apr 18;26(4):281-288. Epub 2022 Feb 18.

Division of Child Neurology, Minneapolis Clinic of Neurology, Minneapolis, MN, USA.

Purpose Of Review: Tuberous sclerosis complex (TSC) and neurofibromatosis (NF) are neurocutaneous disorders often encountered by neurologists in clinical practice. This article aims to familiarize adult and pediatric neurologists with common features of these disorders and headache specific evaluation and management.

Recent Findings: Non-malignant intracranial tumors in TSC include cortical tubers (glioneuronal hamartomas), subependymal nodules or subependymal giant-cell astrocytomas (SEGA). Read More

J Craniofac Surg 2022 Feb 8. Epub 2022 Feb 8.

Department of Oral and Maxillofacial-Head and Neck Oncology Department of Oral Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology, Shanghai, China.

Abstract: Intraosseous benign lesions rarely involve the zygoma, and intraosseous venous malformation is most commonly reported condition in the previous literature. A neurofibroma (NF) arising from the zygoma has not been reported before. Here, the authors present a 37-year-old female who developed solitary NF of the right zygoma. Read More

Oral Oncol 2022 02 19;125:105726. Epub 2022 Jan 19.

Department of Oral Pathology and Microbiology, Saveetha Dental College and Hospitals, Chennai, Tamil Nadu 600077, India.

Cureus 2021 Nov 3;13(11):e19242. Epub 2021 Nov 3.

Department of Dermatology, Prince Mohammed Bin Abdulaziz Hospital, Ministry of Health, Riyadh, SAU.

Schwannoma (neurilemmoma) is a benign neoplasm that arises from the nerve sheath's Schwann cells. Between 25% and 40% of all schwannomas are discovered in the soft tissues of the head and neck area, but they are infrequently detected in the oral cavity, with the lips being the most unusual site of involvement. Peripheral nerves in the intraoral cavity originate only 1% of schwannomas despite the fact that lips and oral cavity are heavily innervated anatomical areas. Read More

Niger J Clin Pract 2021 Nov;24(11):1755-1757

Basic Dental Sciences, College of Dentistry, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant genetic disorder. It is a multisystem neurocutaneous condition represented by multiple benign tumors of the nerves and skin known as neurofibromas and cafe' au lait spots. However, neurofibroma localized in the mandible is rare. Read More

J Oral Maxillofac Pathol 2021 May-Aug;25(2):374. Epub 2021 Aug 31.

Department of Pedodontics and Preventive Dentistry, SGT University, Gurugram, Haryana, India.

Plexiform neurofibroma (PNF) is a rare form of neurofibromatosis type 1 which is rarely seen isolated. This generally spreads along the peripheral nerve and may affect some nervous rami. This is a poorly circumscribed and locally invasive tumor. Read More

Anticancer Res 2021 Oct;41(10):5033-5044

Private Praxis for Orthodontics, Hamburg-Lokstedt, Hamburg, Germany.

Background/aim: Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome. Bone findings make a significant contribution to the clinical diagnosis of NF1. It has been suggested that there are characteristic skeletal features of the NF1 patients' skull that cause a specific 'NF1 facies'. Read More

J Oral Maxillofac Surg 2022 Jan 14;80(1):197-199. Epub 2021 Aug 14.

Professor and Chair, Department of Oral and Maxillofacial Surgery, University of Illinois at Chicago, Chicago, IL.

Traditional surgical approaches to the inferior alveolar nerve (IAN) pose a technical challenge and risk iatrogenic damage to healthy, uninvolved nerve tissue. The use of computer-assisted virtual surgical planning and fabrication of surgical guides has shown efficacy in various craniomaxillofacial surgical procedures, and may provide greater precision in accessing the inferior alveolar canal and allow for a more conservative approach. The addition of a depth control feature to a tooth-borne and bone-borne surgical guide, with the use of a standard contra-angle handpiece, provides safe and efficient access for IAN repair. Read More

Oral Surg Oral Med Oral Pathol Oral Radiol 2022 01 15;133(1):e26-e32. Epub 2021 Jul 15.

Department Chair, Department of Oral and Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry, Gainesville, FL, USA.

We present a patient with bone abnormalities and a myriad of lesions secondary to his redeveloping renal failure and neurofibromatosis type 1 (NF1). A 21-year-old male renal transplant recipient with NF1 presented with painless masses and large, irregular radiolucent lesions in the maxilla and mandible. After histologic examination, the lesion was diagnosed as a central odontogenic fibroma (COdF) in association with a central giant cell lesion, most consistent with brown tumor of hyperparathyroidism. Read More

Head Neck Pathol 2021 Sep 1. Epub 2021 Sep 1.

Division of Oral and Maxillofacial Pathology, School of Dentistry, University of Minnesota, 515 Delaware Street SE #16-116B, Minneapolis, MN, 55455, USA.

Collision tumors, composed of two distinct benign or malignant neoplasms, are rarely reported in the oral cavity. We present a case of a 61-year-old female with an asymptomatic non-demarcated lump on the soft palate of unknown duration. An incisional biopsy revealed the presence of two neoplastic populations, a neurofibroma that was partially infiltrated by a polymorphous adenocarcinoma, low-grade variant. Read More

J Pharm Bioallied Sci 2021 Jun 5;13(Suppl 1):S68-S71. Epub 2021 Jun 5.

Department of ENT, SMBT Institute of Medical Science and Research Centre, Nashik, Maharashtra, India.

Background: Soft tissues of the head and neck areas are a very frequent site of occurrence of certain benign tumors of the peripheral nerve sheath, especially the neurofibromas. Hence, the present study was conducted for assessing clinical, radiographic, and treatment profile of 10 cases of neurogenic tumors and tumor-like lesions of the oral and maxillofacial region.

Materials And Methods: Data records of a total of 10 patients who were diagnosed with tumors of neurogenic origin were enrolled in the present study. Read More

Cureus 2021 Jul 20;13(7):e16512. Epub 2021 Jul 20.

Pathology and Faculty Affairs, University of the Incarnate Word School of Osteopathic Medicine, San Antonio, USA.

Neurofibromatosis (NF) is an autosomal genetic disorder with three types, including NF1, NF2, and schwannomatosis. It is characterized by bulging and deforming masses arising from multiple nerves involving skin folds and connective tissues. Prompt diagnosis and provision of care for NF1 patients by clinicians aware of the diverse clinical features of this disorder are needed for optimum patient care and management. Read More

J Oral Maxillofac Pathol 2021 Jan-Apr;25(1):25-30. Epub 2021 May 14.

Department of Oral and Maxillofacial Surgery, Government Dental College and Hospital, Nagpur, Maharashtra, India.

Context: Neurofibroma is a benign peripheral nerve sheath tumor. Commonly found in the peripheral soft tissues, it can manifest as a solitary mass or as a component of neurofibromatosis.

Aims: The purpose of the retrospective cross-sectional study was contributing to the literature by providing data about the prevalence of oral neurofibroma in Central Indian population. Read More

Neurology 2021 08 6;97(7 Suppl 1):S15-S24. Epub 2021 Jul 6.

From the Department of Genetics (A.C., W.N.) and School of Nursing (P.L.), University of Alabama at Birmingham; Dermatology Branch, National Institutes of Arthritis, Musculoskeletal, and Skin Diseases (D.C.P.), and Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute (D.C.P., P.L.W., B.C.W.), NIH, Bethesda, MD; Children's Tumor Foundation (S.A.), New York, NY; Neurofibromatosis Network (G.E.), Wheaton, IL; Neurofibromatosis Northeast (A.J.L.), Burlington, MA; NF Kinder (C.R.), Vienna, Austria; Children's Hospital Los Angeles (T.R.); Keck School of Medicine (T.R.), University of Southern California, Los Angeles; Neurology (J.O.B.), Johns Hopkins School of Medicine, Baltimore, MD; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.

Objective: To assess the perspectives of adults with neurofibromatosis 1 (NF1) regarding cutaneous neurofibroma (cNF) morbidity, treatment options, and acceptable risk-benefit ratio to facilitate the design of patient-centered clinical trials.

Methods: An online survey developed by multidisciplinary experts and patient representatives of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) cNF Working Group was distributed to adults with NF1 (n = 3,734) in the largest international database of individuals with any form of NF. Eligibility criteria included self-reported NF1 diagnosis, age ≥18 years, ≥1 cNF, and ability to read English. Read More

Am J Med Genet A 2021 10 21;185(10):2976-2985. Epub 2021 Jun 21.

Orthopaedic Research & Biotechnology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

Reduced muscle tone, muscle weakness, and physical fatigue can impact considerably on quality of life for children with neurofibromatosis type 1 (NF1). Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this phenotype. The aim of this study is to examine whether daily L-carnitine supplementation is safe and feasible, and will improve muscle strength and reduce fatigue in children with NF1. Read More

Cancer Genet 2021 08 25;256-257:110-114. Epub 2021 May 25.

Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London SE1 9RT, United Kingdom; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, United Kingdom. Electronic address:

We report a novel case of multiple paragangliomas in a patient who was identified with pathogenic variants in both NF1 and SDHD genes. The proband is a man with known familial NF1 disease, diagnosed clinically in childhood. Multiple head and neck paragangliomas (HNPGL) were found during investigations for acute left sided neurological symptoms, in the region of his known plexiform neurofibroma. Read More

Clin Oral Investig 2022 Jan 29;26(1):159-169. Epub 2021 May 29.

Department of Oral Pathology and Diagnosis, School of Dentistry, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Rio de Janeiro, Brazil.

Objectives: The aim of this study was to evaluate the mandibular condyles of neurofibromatosis 1 (NF1) individuals without facial plexiform neurofibroma using cone beam computed tomography images.

Materials And Methods: Eighty cone beam computed tomography scans (160 mandibular condyles) were analyzed: 40 from NF1 individuals (study group) and 40 from individuals without NF1 (control group). The anteroposterior and mediolateral dimensions, height, and volume of the mandibular condyles were measured. Read More

In Vivo 2021 May-Jun;35(3):1711-1736

Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

Background/aim: Neurofibromatosis type 1 (NF) is an autosomal dominant hereditary disease. The cardinal clinical findings include characteristic skeletal alterations. Difficulties in diagnosis and therapy can arise if an individual has further illnesses. Read More

Int J Surg Case Rep 2021 May 10;82:105883. Epub 2021 Apr 10.

Department of Oral and Maxillofacial Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

Introduction: Neurofibromatosis is a disease that causes various abnormalities such as neurofibroma, mainly in the skin and nerves. The common sites in the oral cavity are the palate, gingiva, tongue, buccal mucosa, and lips but, occurrence in the mandible is rare.

Presentation Of Case: A 26-year-old woman was referred to our clinic because of percussion pain. Read More

Stomatologiia (Mosk) 2021 ;100(2):86-89

A. Tsyb Medical Radiological Research Center - branch of the National Medical Research Radiological Center, Obninisk, Russia.

A clinical case of successful treatment of isolated tongue neurofibroma presented patient , 64 years old, referred to the clinic complaining of a feeling of «discomfort» on swallowing. With a comprehensive examination, a diagnosis of an isolated tongue neurofibroma was established. Surgical treatment was performed. Read More

Int J Med Sci 2021 3;18(9):2008-2016. Epub 2021 Mar 3.

Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai 200011, P.R. China.

Plexiform neurofibroma (pNF) in the head and neck is a characteristic feature in patients with neurofibromatosis type 1 (NF1) and is associated with significant disfigurement and psychological distress. Yes-associated protein (YAP), the key molecule involved in the Hippo pathway, is a vital transductor that regulates the proliferation and remyelinating of Schwann cells. The functional status of YAP and its feasibility as a potential target are still unknown in pNF. Read More