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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

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 Apr 9. Epub 2020 Apr 9.

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

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

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

J Oral Maxillofac Pathol 2020 Feb 28;24(Suppl 1):S106-S109. Epub 2020 Feb 28.

Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Research Centre, Hyderabad, Telangana, India.

Neurofibromatosis type 1 (NF-1) or von Recklinghausen's disease is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas). Head-and-neck neurofibroma is generally located in the soft tissue. Here, we present a case of a 12-year-old girl with NF-1. Read More

J Oral Maxillofac Pathol 2020 Feb 28;24(Suppl 1):S86-S90. Epub 2020 Feb 28.

Department of OMR, Dhulikhel Hospital, Kathmandu University, School of Medical Sciences, Nepal.

Malignant peripheral nerve sheath tumor (MPNST) is also termed as spindle cell malignancy of the peripheral nerve Schwann cell. It is a rare and highly aggressive, soft-tissue sarcoma of ectomesenchymal origin that accounts for 10% of all sarcomas and only 10%-12% of all lesions occur in the head-and-neck region, thus making it a rare entity. It arises or from the preexisting benign neurofibroma. Read More

N Engl J Med 2020 04 18;382(15):1430-1442. Epub 2020 Mar 18.

From the Pediatric Oncology Branch (A.M.G., P.L.W., E.D., P.W., S.M., M.C.R., D.C.P., A.C., J.T., O.K., J.G., B.C.W.) and the Clinical Pharmacology Program (C.J.P., W.D.F.), Center for Cancer Research, National Cancer Institute, and the Rehabilitation Medicine Department, Clinical Center (S.M.P), National Institutes of Health, Bethesda, the Clinical Monitoring Research Program Directorate, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick (A.B., K.H.), the Cancer Therapy Evaluation Program (M.S., L.A.D.) and the Biostatistics and Data Management Section, Center for Cancer Research (S.M.S., D.J.V.), National Cancer Institute, National Institutes of Health, Shady Grove, and Johns Hopkins University School of Medicine, Baltimore (J.O.B.) - all in Maryland; Children's Hospital of Philadelphia, Philadelphia (M.J.F., A.C.S.); Cincinnati Children's Hospital, Cincinnati (B.W.); Children's National Hospital, Washington, DC (A.K., M.B.); and Indiana University School of Medicine, Indianapolis (D.W.C., C.Z.).

Background: No approved therapies exist for inoperable plexiform neurofibromas in patients with neurofibromatosis type 1.

Methods: We conducted an open-label, phase 2 trial of selumetinib to determine the objective response rate among patients with plexiform neurofibromas and to assess clinical benefit. Children with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas received oral selumetinib twice daily at a dose of 25 mg per square meter of body-surface area on a continuous dosing schedule (28-day cycles). Read More

BMJ Case Rep 2020 Feb 28;13(2). Epub 2020 Feb 28.

Department of Oral Medicine and Radiology, Maharishi Markandeshwar College of Dental Sciences and Research, Ambala, Haryana, India

Neurofibroma (NF) is a benign tumour of the peripheral nervous system which is rare in head and neck region. Head and neck NF are mostly located in the soft tissue and rarely seen intraosseously. These may present either as solitary lesions or as part of the generalised syndrome of neurofibromatosis or von Recklinghausen's disease of the skin. Read More

Pediatr Int 2020 Feb 6. Epub 2020 Feb 6.

Pediatric Oncology Unit, Department of Pediatrics, Reina Sofia University Hospital, Menéndez Pidal Ave, 14004, Córdoba, Spain.

Background: Clinical features of neurofibromatosis type 1 (NF1) are diverse and include plexiform neurofibromas (PNs). Increasing knowledge of the molecular pathways involved in the growth of NF1 related tumours and the advent of molecularly targeted anti-cancer drugs have resulted in the development of potential medical treatments to cease PNs progression in these patients. The inactivation of genes responsible for phakomatoses have been linked in a common biochemical pathway to a deregulation of the mammalian target of rapamycin (mTOR) signalling. Read More

J Craniomaxillofac Surg 2020 Jan 16;48(1):98-104. Epub 2019 Dec 16.

Orthodontic Practice, Lottest. 55, D-22529, Hamburg, Germany.

Purpose: The purpose of the study was the investigation of supernumerary teeth (ST) in the permanent dentition of patients with neurofibromatosis type 1 (NF1).

Material And Methods: The panoramic radiographs of 200 NF1 patients were analysed for ST. The potential impact of certain neurogenic facial tumours on the measured variable was investigated separately. Read More

BMC Cancer 2019 Dec 27;19(1):1250. Epub 2019 Dec 27.

Division of Hemato-Oncology, Department of Pediatrics, McGill University Health Center, Montreal Children's Hospital, Montreal, QC, Canada.

Background: Pediatric low-grade gliomas (PLGG) are the most frequent brain tumors in children. Up to 50% will be refractory to conventional chemotherapy. It is now known that the majority of PLGG have activation of the MAPK/ERK pathway. Read More

Indian J Otolaryngol Head Neck Surg 2019 Nov 10;71(Suppl 3):2087-2090. Epub 2018 Sep 10.

Department of Oral and Maxillofacial Surgery, Yogita Dental College and Hospital, Naringi Riverside, Dapoli Road, Khed, Ratnagiri, Maharashtra India.

Ossifying fibroma is a benign fibro-osseous lesion found exclusively in jaws. It has a predilection for premolar-molar region in the mandible. The occurrence of OF as solitary lesions with no underlying disease is common in jaws. Read More

Indian J Otolaryngol Head Neck Surg 2019 Oct 21;71(Suppl 1):38-41. Epub 2016 Mar 21.

2Deparment of Oral Pathology, P.M.N.M Dental College and Hospital, Bagalkot, Karnataka India.

The solitary neurofibroma is a benign tumor of neuronal origin uncommonly reported in the oral cavity. The possible association of this neoplasia with systemic pathologies, such as von Recklinghausen's disease and multiple endocrine neoplasia, makes its diagnosis fundamental. Solitary isolated neurofibroma of the soft palate not associated with von Recklinghausen's disease is an unusual tumor and probably only four cases have been reported in English literature previously. Read More

Wounds 2019 Oct;31(10):E65-E67

Department of Dermatology, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.

Introduction: The association between neurofibromatosis type 1 (NF-1) and vasculopathy has been reported frequently, especially cerebral, intestinal, and peripheral vasculopathy. However, cutaneous vasculopathy is infrequent.

Case Report: The authors present the case of a 32-year-old man with a painful ulcer on his left thigh of 3 weeks' duration in the same location as a long-time capillary malformation associated with alopecia. Read More

J Cutan Pathol 2020 Mar 14;47(3):202-206. Epub 2019 Nov 14.

Postgraduate Program in Oral Pathology, Federal University of Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil.

Neurofibromas are benign neoplasms of the peripheral nerve sheath, characterized by the proliferation of Schwann cells, perineural cells and endoneural fibroblasts. Their occurrence in the oral and maxillofacial complex is uncommon. This study aimed to evaluate the clinical and histopathological characteristics of neurofibromas of the oral and maxillofacial complex excised at our institution over a 48-year period. Read More

J Clin Exp Dent 2019 Aug 1;11(8):e721-e731. Epub 2019 Aug 1.

MD, DDS, PhD, Professor, Head of Department of Oral Medicine and Pathology, Department of Dentistry, School of Health Sciences, National and Kapodistrian University of Athens, Greece.

Background: Oral neural tumors (ONTs) are rare lesions and represent reactive or neoplastic proliferations of nerve sheath cells. The purpose of the present study is to report the clinical, demographic and histopathologic features of 157 ONTs diagnosed in a single Oral Pathology Department and review the pertinent literature.

Material And Methods: 157 cases of ONTs diagnosed during a 44-year period were retrospectively collected and the diagnosis was reconfirmed by studying representative haematoxylin and eosin stained tissue sections. Read More

Bone 2019 12 30;129:115055. Epub 2019 Aug 30.

Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address:

Context: The mechanism behind hypophosphatemia in the setting of neurofibromatosis type 1 (NF1) is not known. We describe a possible role of fibroblast growth factor-23 (FGF23) in the pathophysiology of hypophosphatemia in a patient with NF1.

Case Description: A 34-year woman with NF1 presented with severe hypophosphatemia, osteomalacia, and elevated plasma FGF23. Read More

BMC Oral Health 2019 08 29;19(1):197. Epub 2019 Aug 29.

Faculté d'odontologie, Université Reims Champagne Ardenne, Reims, France.

Background: Neurofibromas (NF) are benign tumors of the peripheral nerves that are composed of Schwann cells, perineural-like cells and fibroblasts. The differential diagnosis for a solitary intraneural variant of neurofibroma arising in the floor of the mouth is broad and includes a submandibular gland neoplasm and adenopathy, among others. The intraoral approach is the best choice for a medium-sized lesion. Read More

Nihon Shokakibyo Gakkai Zasshi 2019 ;116(7):583-591

Second Department of Surgery, Hamamatsu University School of Medicine.

A 60-year-old female visited our hospital because of the identification of two duodenal tumors on upper gastrointestinal endoscopy performed for the investigation of anemia. The oral ampullary tumor was proven to be a neuroendocrine tumor (NET) on endoscopic biopsy. However, biopsy was not performed for the anal submucosal tumor (SMT) in the third duodenal portion because the tumor was included in the planned resection area. Read More

Imaging Sci Dent 2019 Jun 24;49(2):87-95. Epub 2019 Jun 24.

School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Purpose: The aim of this study was to review the common conditions associated with mandibular canal widening.

Materials And Methods: General search engines and specialized databases including Google Scholar, PubMed, PubMed Central, Science Direct, and Scopus were used to find relevant studies by using the following keywords: "mandibular canal," "alveolar canal," "inferior alveolar nerve canal," "inferior dental canal," "inferior mandibular canal," "widening," "enlargement," "distension," "expansion," and "dilation."

Results: In total, 130 articles were found, of which 80 were broadly relevant to the topic. Read More

Dentomaxillofac Radiol 2019 Oct 13;48(7):20180341. Epub 2019 Jun 13.

Department of Oral and Maxillofacial Surgery, Yonsei University College of Dentistry, Seoul, Republic of Korea.

Malignant peripheral nerve sheath tumour (MPNST) is a rare mesenchymal tumour which usually presents high grade malignancy. We report an atypical case of intraosseous malignant peripheral nerve sheath tumour on mandible in a 36-year-old male. Patient presented with an incidentally discovered radiolucency on the left anterior mandible and did not complain of any symptoms. Read More

Indian J Dent Res 2019 Mar-Apr;30(2):318-321

Department of Oral and Maxillofacial Surgery, Balaji Dental and Craniofacial Hospital, Chennai, Tamil Nadu, India.

Malignant peripheral nerve sheath tumor (MPNST) is a rare pathologic lesion in a patient with solitary neurofibroma. A 32-year-old man presented with a firm and slightly tender mass in the right infratemporal region involving the right preauricular and temporomandibular joint area. The patient has a history of removal of a solitary neurofibroma 22 years back in the same region. Read More

Head Neck Pathol 2020 Jun 20;14(2):374-380. Epub 2019 May 20.

Department of Pathology, Orange County-Anaheim Medical Center, Southern California Permanente Medical Group, Anaheim, CA, USA.

Neurofibromas rarely occur within the oral cavity and infrequently involve the tongue. The majority of lingual neurofibromas arise in patients affected by neurofibromatosis type 1 (NF1). Neurofibromas of the tongue unassociated with this disorder are exceedingly uncommon. Read More

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Sep 15;128(3):e108-e112. Epub 2019 Mar 15.

Department of Stomatology, School of Dentistry, Federal University of Amazonas, Manaus, AM, Brazil.

Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder caused by mutations of chromosome 17. The NF1 clinical diagnosis is based on pre-established criteria, including the presence of cutaneous neurofibromas, café au lait spots, and iris (Lisch) nodules. Early detection and a multidisciplinary approach are essential for the prevention of complications, including problems of function, aesthetics, and self-esteem, as well as the occurrence of malignant transformation. Read More

GMS Interdiscip Plast Reconstr Surg DGPW 2019 8;8:Doc03. Epub 2019 Feb 8.

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

Vater-Pacini neuromas are rare causes of severe pain in the phalanges. The cause of this change in the tactile corpuscles is unknown. A traumatic cause has been plausibly demonstrated, at least in some cases. Read More

J Oral Maxillofac Pathol 2019 Feb;23(Suppl 1):23-26

Department of Oral and Maxillofacial Pathology, SRM Dental College and Hospital, Chennai, Tamil Nadu, India.

Neurofibroma is a benign, slow-growing, peripheral nerve neoplasm. It presents as a solitary tumor or component of neurofibromatosis (NF) and von Recklinghausen's disease. The occurrence of solitary neurofibromas in the oral cavity is less frequent, and those in the palate are reported in less numbers. Read More

Anticancer Res 2019 Apr;39(4):1971-1985

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

Background/aim: The purpose of the study was to investigate whether non-odontogenic intraosseous translucent lesions of mandibular body are depicted on radiographs of patients with neurofibromatosis type 1 (NF1).

Materials And Methods: The panoramic radiographs of 179 NF1 patients were analysed for translucent lesions of the mandibular body that were of intraosseous, non-odontogenic origin. The results were compared to findings obtained in panoramic radiographs of age- and sex-matched controls. Read More

SAGE Open Med Case Rep 2019 19;7:2050313X19838184. Epub 2019 Mar 19.

Pôle d'Odontologie, Hôpital Maison Blanche, Centre Hospitalier Universitaire Reims, Reims, France.

Schwannomas are benign peripheral nerve sheath tumors originating from the Schwann cells. Most schwannomas in the head and neck region are solitary; however, multiple schwannomas affecting one or more nerves suggest a possible association with neurofibromatosis type 2 and schwannomatosis. Plexiform schwannoma is a rare variant of conventional schwannoma that is characterized by intraneural multinodular growth. Read More

J Cutan Aesthet Surg 2018 Oct-Dec;11(4):245-247

Department of Dermatology, Mazandaran University of Medical Sciences, Sari, Iran.

A young otherwise healthy male presented with asymptomatic pinkish-red nodule over postero-lateral tongue with the suspicion of having developed oral cancer. Biopsy from the lesion showed multiple circumscribed nodules in the lamina propria comprised of numerous oval and spindle-shaped cells. Abundant lymphatic tissue with germinal centres were also observed. Read More

Interact Cardiovasc Thorac Surg 2019 07;29(1):152-153

Department of CTVS, Mahatma Gandhi Medical College and Research Institute, Pondicherry, India.

Neurofibromatosis type 1 vasculopathy is a well-documented entity in the literature, but a rupture of the thyrocervical artery aneurysm is very rare and only 2 cases have been reported to date. Our patient presented with a right-sided hemiparesis and deviation of the angle of the mouth to the left. He was diagnosed to have hypertensive bleed in the left capsulo-ganglionic area. Read More

J Lasers Med Sci 2018 28;9(3):219-222. Epub 2018 Jul 28.

School of Dentistry, Centro Universitário Newton Paiva, Belo Horizonte, Minas Gerais, Brazil.

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that affects approximately 1/3500 individuals. Various bone manifestations and peripheral nerves neoplastic lesions associated with NF1 are seen in the jaws. Several oral manifestations may occur in this disorder; therefore the dentist's knowledge and multidisciplinary management of these patients are extremely important. Read More

Anticancer Res 2019 Feb;39(2):827-831

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

This report describes the diagnosis and treatment of a 27-year-old patient with neurofibromatosis 1 (NF1) and late progression of a pre-existing optic pathway glioma (OPG) that caused significant reduction in vision. OPG is one of the diagnostic criteria for establishing the diagnosis of NF1. Most common findings of NF1 are café-au-lait spots, axillary and inguinal freckling of the skin, iris hamartoma (Lisch nodules), and tumors of the central nervous system and peripheral nerves. Read More

Nat Protoc 2019 02;14(2):541-555

Edwin L. Steele Laboratories, Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Neurofibromatosis type II (NF2) is a disease that lacks effective therapies. NF2 is characterized by bilateral vestibular schwannomas (VSs) that cause progressive and debilitating hearing loss, leading to social isolation and increased rates of depression. A major limitation in NF2 basic and translational research is the lack of animal models that allow the full spectrum of research into the biology and molecular mechanisms of NF2 tumor progression, as well as the effects on neurological function. Read More

Craniomaxillofac Trauma Reconstr 2018 Dec 4;11(4):324-330. Epub 2017 Dec 4.

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

Certain skeletal defects may develop in neurofibromatosis type 1 (NF1), a common tumor-suppressor syndrome, such as cranial lesions confined to the lambdoid suture region. Here, we report on the repair of osseous defects of occipital bone in a NF1 patient with history of skull trauma and tumorous hemorrhage. Computer-aided design and computer-aided manufacturing (CAD/CAM)-assisted devices were applied to safely close the bone defects. Read More

J Craniofac Surg 2019 May/Jun;30(3):e205-e207

Department of Oral and Maxillofacial Surgery II, Osaka University Graduate School of Dentistry, Osaka, Japan.

Gingival enlargement, although frequently encountered in clinical settings, is rarely associated with systemic diseases or syndromes. Among the diverse pathological conditions of neurofibromatosis type 1 (NF-1), minor manifestations in the orofacial region are occasionally overlooked. Herein, the authors present an unusual case of gingival neurofibroma in a patient with NF-1 associated with characteristic osseous defects in the alveolus in the long-term course of 17 years from the first examination. Read More

Indian J Pathol Microbiol 2018 Oct-Dec;61(4):561-563

Department of Dentistry, SP Medical College, Bikaner, Rajasthan, India.

Spindle cell lipoma (SCL), also called as pleomorphic adenoma, is a rare variant of lipoma histopathologically characterized by an admixture of mature fat cells with spindle cells and occasionally mast cells with myxoid connective tissue stroma and thick bends of birefringent collagen. Although buccal mucosa is the most common location for oral lipomas, for SCL, it is an exceedingly rare location. We report a case of an asymptomatic swelling of buccal mucosa that simulated the features of neurofibroma on histopathological examination, and the final diagnosis of SCL was made on the basis of immunohistochemical features. Read More

Drugs R D 2018 Dec;18(4):295-302

Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.

Background: Cutaneous neurofibromas cause disfigurement and discomfort in individuals with neurofibromatosis type 1 (NF-1).

Methods: The primary objective of this phase II, open-label, single-arm trial was to assess whether orally administered everolimus reduced the surface volume of cutaneous neurofibromas in patients with NF-1.

Results: Of 22 patients who took the study drug, 17 completed the trial; 5 patients withdrew due to adverse events. Read More

J Oral Biol Craniofac Res 2018 Sep-Dec;8(3):203-205. Epub 2017 Jul 1.

Department of Oral Pathology, Government Dental College and Hospital, St. George Hospital Campus, Near Chhatrapati Shivaji Terminus Area, Fort, Mumbai, Maharashtra 400001, India.

Radiolucent lesions of Temporomandibular Joint (TMJ) represent a diagnostic challenge and a treatment conundrum. Biopsy of the lesions is technically difficult owing to their complex anatomy. The Differential Diagnosis (DD) includes a wide array of lesions including Simple Bone Cyst, Ameloblastoma, Central Giant Cell Granuloma, Hemangioma, Osteoblastoma, Osteochondroma, Chondroblastoma, Chondrosarcoma, Neurofibroma and metastatic malignant lesions though none has a specific predilection for TMJ. Read More

GMS Interdiscip Plast Reconstr Surg DGPW 2018 3;7:Doc04. Epub 2018 Aug 3.

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

Neurofibromatosis type 1 (NF1) is a tumor predisposition disease. Multiple neurofibromas are among the characteristic tumors of NF1. The report describes the diagnosis and treatment of a large spinal neurofibroma in a NF1 patient. Read More

Orphanet J Rare Dis 2018 08 9;13(1):131. Epub 2018 Aug 9.

Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520, Turku, Finland.

Abtsract: Neurofibromatosis type 1 (NF1) is one of the most common inherited syndromes. The literature on craniofacial alterations associated with NF1 has been limited and partially contradictory. This review is based on literature search and the results of the clinical study "Craniofacial and Oral Alterations and Speech in patients with Neurofibromatosis 1", carried out at the University of Turku and Turku University Hospital, Finland in 2006-2012. Read More

Spec Care Dentist 2018 Sep 25;38(5):328-333. Epub 2018 Jul 25.

School of Dentistry, Faculty of Pediatric Dentistry, Aristotle University of Thessaloniki, University Campus, 54124, Greece.

Α 30-year-old male with features of Neurofibromatosis type II (NF2) including vision and hearing loss, imbalance, and cranial and peripheral nerve tumors, was referred for dental prosthetic rehabilitation. Treatment plan was established to rehabilitate the patient with periodontal, endodontic treatment, extractions, restorative, and prosthetic procedures. Due to severe vision impairment and hearing loss, special communication methods were required in order to achieve patient's cooperation, mainly utilizing the sense of touch. Read More

Clin Med Insights Ear Nose Throat 2018 10;11:1179550618786935. Epub 2018 Jul 10.

Heriberto Pieter Oncology Institute, Santo Domingo, Dominican Republic.

Schwannoma corresponds to a benign neurogenic tumor, derived from neural crest cells. It accounts for approximately 5% of all benign soft tissue tumors. These are the most common cause of peripheral nerve neoplasms of the oral cavity and oropharynx representing 1%. Read More

Hum Genet 2018 Jul 13;137(6-7):543-552. Epub 2018 Jul 13.

Department of Neurology, University Hospital Hamburg Eppendorf, 20246, Hamburg, Germany.

Schwannomatosis and neurofibromatosis type 2 (NF2) are both characterized by the development of multiple schwannomas but represent different genetic entities. Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1. Here, we studied 15 sporadic patients with multiple non-intradermal schwannomas, but lacking vestibular schwannomas and ophthalmological abnormalities, who fulfilled the clinical diagnostic criteria for schwannomatosis. Read More

Anticancer Res 2018 Jul;38(7):4083-4091

Kieferpraxis Lokstedt, Hamburg, Germany.

Neurofibromatosis type (NF1) is an autosomal dominant inherited tumor-suppressor gene syndrome of significant phenotypic variability with probable complete penetrance of the disease. Skeletal malformations of the skull belong to the phenotype of NF1. In the skull, defects of the calvaria and the sphenoid bone are diagnostically groundbreaking findings in NF1. Read More

Mod Pathol 2018 11 26;31(11):1694-1707. Epub 2018 Jun 26.

Department of Molecular Oncology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

Malignant peripheral nerve sheath tumor is a rare and aggressive disease with poor treatment response, mainly affecting adolescents and young adults. Few molecular biomarkers are used in the management of this cancer type, and although TP53 is one of few recurrently mutated genes in malignant peripheral nerve sheath tumor, the mutation prevalence and the corresponding clinical value of the TP53 network remains unsettled. We present a multi-level molecular study focused on aberrations in the TP53 network in relation to patient outcome in a series of malignant peripheral nerve sheath tumors from 100 patients and 38 neurofibromas, including TP53 sequencing, high-resolution copy number analyses of TP53 and MDM2, and gene expression profiling. Read More