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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 Apr 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

Acta Dermatovenerol Croat 2020 Dec;28(7):245-246

Professor Uwe Wollina, MD, Department of Dermatology and Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Friedrichtstrasse 41, 01067 Dresden, Germany;

Dear Editor, Plexiform neurofibroma (PNF) is a particular subtype of benign nerve sheath tumors with a reticular growth pattern not respecting tissue borders and involving several nerve branches or fascicles. It is most commonly reported in patients with neurofibromatosis type-1 (NF-1) and represents in up to 30% of NF-1 patients (1,2). Other possible associations include schwannomatosis, multiple cutaneous schwannomas syndrome, and rarely neurofibromatosis type-2 (NF-2) (3). Read More

BMJ Case Rep 2021 Apr 7;14(4). Epub 2021 Apr 7.

Oral and Maxillofacial Surgery, Pinderfields Hospital, Mid Yorkshire Hospitals NHS Trust, Wakefield, UK.

Neurofibromas are defined as benign tumours arising from peripheral nerve sheaths. Few intraoral palatal cases have been reported. Neurofibromas can occur as part of neurofibromatosis, type 1 (NF1) or type 2 (NF2). Read More

Anticancer Res 2021 Apr;41(4):2083-2092

Private Practice in Orthodontics, Hamburg-Lokstedt, Germany.

Background/aim: Numerical aberrations of permanent dentition and dystopic tooth eruption are part of the phenotype of the tumor predisposition syndrome neurofibromatosis type 1 (NF1). In these cases, surplus tooth germs usually develop in the alveolar processes of the jaw. This report attests to the dystopic development of a dysplastic supernumerary tooth in NF1 arising outside the jaw. Read More

Childs Nerv Syst 2021 Mar 22. Epub 2021 Mar 22.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Introduction: Plexiform neurofibromas (PNF) in neurofibromatosis type 1 (NF1) are usually diagnosed in childhood and can grow rapidly during this period. In 10% of patients, PNF involve the orbital-periorbital area and may cause visual problems including glaucoma, visual loss from amblyopia (deprivational, strabismic, or refractive), optic nerve compression, or keratopathy. Ptosis, proptosis, and facial disfigurement lead to social problems and decreased self-esteem. Read More

Head Neck Pathol 2021 Mar 15;15(1):16-24. Epub 2021 Mar 15.

Department of Pathology, Texas Childrens Hospital, 6621 Fannin St, Houston, TX, 77030, USA.

Cancer predisposition syndromes (CPS) are generally heritable conditions that predispose individuals to develop cancer at a higher rate and younger age than their representative general population. They are a significant cause of cancer related morbidity and mortality in the pediatric population. Therefore, recognition of lesions that may be associated with a CPS and alerting the clinicians to its implications is a crucial task for a diagnostic pathologist. Read More

In Vivo 2021 Mar-Apr;35(2):889-905

Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Background/aim: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition syndrome that can cause plexiform neurofibromas (PNFs). This study examines the surgical procedures that have been performed on large PNFs of the lower extremities.

Patients And Methods: Surgical procedures on the lower extremity performed on 90 patients with NF1 with PNFs were evaluated. Read More

Am J Case Rep 2021 Feb 22;22:e929674. Epub 2021 Feb 22.

Dental and Oral Medical Center, Kurume University School of Medicine, Kurume, Fukuoka, Japan.

BACKGROUND Neurofibromas are benign tumors of neurological origin caused by the proliferation of Schwann cells and fibroblasts; they often occur in the skin and nerves as a symptom of von Recklinghausen disease. Solitary neurofibromas are also known to occur on their own, but solitary development in the hard palate is extremely rare and difficult to distinguish from schwannomas. The neural origin of solitary neurofibromas is also difficult to determine intraoperatively, and there have been no reports that clearly identify the neural origin of neurofibromas in the hard palate. Read More

J Oral Maxillofac Pathol 2020 May-Aug;24(2):395-396. Epub 2020 Sep 9.

Arogya Multispeciality Dental Clinic, Moodbidri, Mangalore, Karnataka, India.

Floret-like giant cells are very commonly seen in neurofibroma and as an indication to be associated with neurofibromatosis type 1 gene. This particular case of intraosseous schwannoma of mandible showing such giant cells, which is rarely reported. Read More

In Vivo 2021 Jan-Feb;35(1):349-361

Orthodontic Practice, Hamburg-Lokstedt, Hamburg, Germany.

Background/aim: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that causes tumors and many developmental disorders, e.g., cranial dysplasia. Read More

Cureus 2020 Oct 31;12(10):e11270. Epub 2020 Oct 31.

Oral and Maxillofacial Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

Neurofibroma is an uncommon benign tumor arising from nerve sheath fibroblasts. The diagnosis of solitary lesions becomes difficult in patients who do not have any family history of neurofibroma. An intra-oral solitary neurofibroma comprises 6. Read More

Head Neck Pathol 2020 Oct 21. Epub 2020 Oct 21.

Department of Pathology, Integra Cancer Institute, Guatemala City, Guatemala.

Carney complex (CNC) is a rare, autosomal dominant multiple neoplasia syndrome. Although cutaneous myxomas commonly occur in CNC patients, intraoral myxomas are extremely rare. We present a case of a palatal myxoma in a 21-year-old female patient with CNC, along with a review of the pertinent literature. Read More

J Paediatr Child Health 2020 Aug 25. Epub 2020 Aug 25.

Department of Oral and Maxillofacial Surgery, School of Dentistry, Kyungpook National University, Daegu, South Korea.

Medicina (Kaunas) 2020 Jun 30;56(7). Epub 2020 Jun 30.

Department of Oral and Maxillofacial Surgery, Rabin Medical Center-Beilinson Hospital, Petach Tikva, 4941492, Israel.

Background: Plexiform ameloblastoma is a locally aggressive odontogenic tumor, rare in the anterior mandible. The treatment of choice is resection with 1-3 cm free margins. In most of reported cases, the affected mandible is reconstructed by autogenic bone graft or osseocutaneous microvascular free flap in order to return function and esthetics. Read More

Head Neck Pathol 2020 Dec 6;14(4):1021-1027. Epub 2020 Jun 6.

Division of Oral and Maxillofacial Pathology, University of Florida College of Dentistry, 1395 Center Dr, Gainesville, FL, 32610-0414, USA.

Odontogenic myxoma (OM) is an uncommon benign odontogenic tumor arising in the jaw. Though it has slight histologic overlap with other entities, definitive diagnosis is imperative considering the tumor's aggressive nature, high recurrence rate, and necessity of radical surgical intervention in large-sized lesions. With IRB approval, a retrospective search of the University of Florida College of Dentistry Oral Pathology Biopsy Service archives from 1994 to 2017 for diagnosis of OM of the jaw was performed. Read More

Anticancer Res 2020 Jun;40(6):3423-3427

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

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease with complete penetrance and a very variable phenotype. Recent research has shown that postzygotic NF1 gene mutations occur to a far greater extent than previously thought. The phenotype of affected individuals reflects the time of somatic mutation and the phenotype is correspondingly diverse. Read More

Orv Hetil 2020 05;161(22):924-930

Fogorvostudományi Kar, Parodontológiai Klinika,Semmelweis Egyetem Budapest, Szentkirályi u. 47., 1088.

A seven-year-old girl was referred to the Department of Periodontology of the Semmelweis University with a symmetric bilateral, painless, non-inflammatory diffuse enlargement on the lingual aspects of her lower jaw. The family history revealed that her mother and elder sister had Recklinghausen's disease with typical characteristic dermatological signs and they are registered by the National NF Registry. Extraoral examination revealed an evident protrusion of the lips. Read More

Stomatologiia (Mosk) 2020 ;99(2):85-90

Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.

The aim of the study was to summarize literature data on oral and maxillofacial manifestations of neurofibromatosis I (NFI) and to analyze clinical case in with dentist had the leading role in proper diagnosis of the disease. Literature review showed main oral alterations in NFI to be: neurofibroma formation seen in 8-14% of children and adolescents, dysplastic «orthodontic» phenotype with shortened mandible, maxilla and sphenoid bones; radiologic signs including alveolar nerve canal and mental foramen widening in almost one third of patients; lesions of cranial nerves (mainly trigeminal, facial and glossopharyngeal), with non-specific paralysis clinic. These symptoms, however, develop gradually throughout the life and may be evident only in late adolescents. Read More

Int J Clin Pediatr Dent 2019 Nov-Dec;12(6):577-581

Pediatric Dentistry Department, CHU/Université Nantes, France; UMR 1246 - SPHERE "Methods in Patient-centered Outcomes and Health Research", Université Nantes et Tours, France.

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous genetic disorder that manifests in the form of coffee-milk spots on the skin, Lish nodules, lentigines on the underarms and on the inguinal region, and neurofibromas. Orofacial manifestations of NF1 are common. Through a review of the literature, bone lesions, orthodontic and dental abnormalities, periodontal manifestations, and caries related to NF1 will be explored. Read More

In Vivo 2020 May-Jun;34(3):1031-1036

Department of Oral and Maxillofacial Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

Background/aim: Plexiform neurofibromas (PNFs) are benign tumors of the periph eral nerves sheath, which can damage neighboring organs, impair functions, cause pain and serious maxillofacial disfigurement, and have a high risk of malignant transformation. Complete resection is usually not possible since PNFs often extend through multiple layers of tissue. Therefore, it is necessary and beneficial to find a reasonable drug treatment for PNFs. Read More

Indian J Pathol Microbiol 2020 Apr-Jun;63(2):276-278

Australian Research Centre for Population Oral Health (ARCPOH), Adelaide Dental School, University of Adelaide, Adelaide, South Australia, Australia.

Neurofibroma (NF) is a benign tumor derived from the peripheral nerve sheath. Neurofibromas may present either as solitary lesions or as part of the generalized syndrome of neurofibromatosis or von Recklinghausen's disease of the skin. The intraosseous variant of NF is very rare. Read More

Oncologist 2020 07 22;25(7):e1109-e1116. Epub 2020 Apr 22.

NYU Langone Health, New York, New York, USA.

Early-phase clinical trials using oral inhibitors of MEK, the mitogen-activated protein kinase kinase, have demonstrated benefit for patients with neurofibromatosis type 1 (NF1)-associated tumors, particularly progressive low-grade gliomas and plexiform neurofibromas. Given this potential of MEK inhibition as an effective medical therapy, the use of targeted agents in the NF1 population is likely to increase substantially. For clinicians with limited experience prescribing MEK inhibitors, concern about managing these treatments may be a barrier to use. Read More

JAMA Dermatol 2020 06;156(6):706-708

Department of Dermatology, University of North Carolina, Chapel Hill.

Cureus 2020 Feb 27;12(2):e7118. Epub 2020 Feb 27.

Periodontology, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

Neurofibromatosis (NF) is a genetic disorder that presents as benign tumours of the nervous system originating from the nerve sheath. It is of three types: Type I, Type II and Schwannomatosis. Type I Neurofibromatosis or von Recklinghausen's disease is the most common type of neurofibromatosis seen and it accounts for 90% of all cases seen. Read More

Rev Fac Cien Med Univ Nac Cordoba 2020 03 12;77(1):45-48. Epub 2020 Mar 12.

Facultad de Odontología. Universidad Nacional de Córdoba.

Introduction: Neurofibroma (NF) is a benign tumor originated from neuronal cells, and can occur alone or multiple. Its manifestation within the oral cavity is rare, with a wide age range of appearance. This tumor occurs in a sessile-based nodular form, with slow growth and variable size. Read More

Neuro Oncol 2020 10;22(10):1527-1535

Department of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts.

Background: Activation of the mammalian target of rapamycin (mTOR) pathway is observed in neurofibromatosis type 1 (NF1) associated low-grade gliomas (LGGs), but agents that inhibit this pathway, including mTOR inhibitors, have not been studied in this population. We evaluate the efficacy of the orally administered mTOR inhibitor everolimus for radiographically progressive NF1-associated pediatric LGGs.

Methods: Children with radiologic-progressive, NF1-associated LGG and prior treatment with a carboplatin-containing chemotherapy were prospectively enrolled on this phase II clinical trial to receive daily everolimus. Read More

J Craniofac Surg 2020 May/Jun;31(3):876-878

Department of Plastic Surgery, Inha University School of Medicine, Incheon, South Korea.

The aim of this paper is to review the origin, physical properties, advantages, and usage of catgut in plastic surgery and oral surgery.In PubMed search, the search terms ("catgut" AND ["plastic surgery" OR "facelift"]) and ("catgut" AND "oral surgery") were used, resulting in 28 and 30 papers, respectively. Of those 58 papers, 31 papers were excluded. Read More