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    Intraosseous neurofibroma in a 13-year-old male patient: A case report with review of literature.
    J Cancer Res Ther 2018 Apr-Jun;14(3):712-715
    Department of Oral and Maxillofacial Pathology and Microbiology, Dr. D. Y. Patil School of Dentistry, Navi Mumbai, Maharashtra, India.
    Neurofibroma is a benign tumor of nerve tissue origin, derived from the cells that constitute the nerve sheath. It is commonly found in soft tissues, but the intraosseous occurrence of solitary neurofibroma in the head and neck is comparatively rare, with the most common site being mandible. This article presents a case report of neurofibroma on the posterior right side of the mandible of a 13-year-old boy who is the youngest patient in the series along with a review of literature. Read More

    A combination of skeletal deformations of the dorsal mandible and temporomandibular region detected in orthopantomograms of patients with neurofibromatosis type 1 indicates an associated ipsilateral plexiform neurofibroma.
    J Craniomaxillofac Surg 2018 Jul 26;46(7):1091-1104. Epub 2018 Apr 26.
    Department of Oral and Craniomaxillofacial Surgery (Acting Director: PD Dr. Dr. H. Hanken), Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Purpose: Neurofibromatosis type 1 (NF1) is a tumour suppressor syndrome and also a bone disease. In the craniofacial region, local skeletal deformities have been recorded in patients with NF1. Obvious syndrome-related alterations of the jaws are particularly conspicuous in the mandible. Read More

    Endoglin is Highly Expressed in Human Mast Cells.
    Appl Immunohistochem Mol Morphol 2018 May 4. Epub 2018 May 4.
    Department of Oral Pathology, São Leopoldo Mandic Institute and Research Center.
    Endoglin, known to be expressed in proliferating vessels, is of worth when evaluating microvessel density as a prognostic factor in many types of malignancies, including some subtypes of leukemia cells. In childhood acute lymphoblastic leukemia, endoglin is associated with adverse outcome. In bone marrow, endoglin identifies the repopulating hematopoietic stem cells. Read More

    Decayed, missing, and restored teeth in patients with Neurofibromatosis Type 1.
    J Clin Exp Dent 2018 Feb 1;10(2):e107-e115. Epub 2018 Feb 1.
    Senior registrar, Department of Prosthodontics, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Background: NF1 is a relatively frequently occurring autosomal dominant inherited disease. There are conflicting reports about oral health status in NF1. The aim of this study was to analyze the dental status of patients with neurofibromatosis type 1 (NF1). Read More

    Periapical Cemento-osseous Dysplasia Is Rarely Diagnosed on Orthopantomograms of Patients with Neurofibromatosis Type 1 and Is Not a Gender-specific Feature of the Disease.
    Anticancer Res 2018 04;38(4):2277-2284
    Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Several skeletal aberrations of the skull have been described for the tumor predisposition syndrome neurofibromatosis type 1 (NF1). Recently, periapical cemental/cemento-osseous dysplasia (COD) has been described in females affected with NF1. This reactive lesion of the hard tissues in tooth-bearing areas of the jaw has been proposed to represent a gender-specific radiological feature of NF1. Read More

    Supernumerary Molars and Wisdom Tooth Shape Alterations in Patients with Neurofibromatosis Type 1.
    J Oral Maxillofac Res 2017 Oct-Dec;8(4):e5. Epub 2017 Dec 31.
    Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, HamburgGermany.
    Objectives: The purpose of the present study was the systematic investigation of numerical and morphological aberrations of teeth in the wisdom teeth region in neurofibromatosis type 1 patients.

    Material And Methods: The panoramic radiographs of 179 patients were analysed for supernumerary molars and dysplastic wisdom teeth with special reference to facial tumour type. The results were compared to radiographic findings obtained in panoramic radiographs of age- and sex-matched controls. Read More

    Peripheral nerve sheath tumors of the upper extremity and hand in patients with neurofibromatosis type 1: topography of tumors and evaluation of surgical treatment in 62 patients.
    GMS Interdiscip Plast Reconstr Surg DGPW 2017 5;6:Doc15. Epub 2017 Dec 5.
    Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg.
    Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome with a tendency to develop peripheral nerve sheath tumors (PNST). Plexiform neurofibromas (PNF) are detected in a high proportion of affected patients. The tumors can lead to severe disfigurement and are classified as precancerous. Read More

    Palisaded Encapsulated (Solitary Circumscribed) Neuroma of the Buccal Mucosa: a Rare Case.
    J Dent (Shiraz) 2017 Dec;18(4):314-317
    School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
    The rarity of oral soft tissue spindle cell tumors combined with overlapping microscopic patterns can make challenges in their diagnosis and treatment. Oral cavity palisaded encapsulated neuroma is an uncommon lesion which occurs often on the hard palate. It is essential for oral pathologists to be familiar with its histopathology of this lesion is essential since many lesions are probably diagnosed microscopically as neurofibroma or schwannoma. Read More

    Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1.
    Anticancer Res 2017 12;37(12):6907-6910
    Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disorder. Neurofibroma is the most common neoplasm of this disease. This lesion is characterized by circumscribed soft or knotty skin tumors derived from peripheral nerve sheath cells. Read More

    Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors.
    Adv Exp Med Biol 2017 ;987:151-159
    2nd Department of Neurology, School of Medicine, University of Athens, Attikon Hospital, Athens, Greece.
    Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. Read More

    Familial Cancers of Head and Neck Region.
    J Clin Diagn Res 2017 Jun 1;11(6):ZE01-ZE06. Epub 2017 Jun 1.
    Reader, Department of Oral Pathology, Krishnadevaraya College of Dental Sciences, Bengaluru, Karnataka, India.
    Cancers that occur in families more often than would be expected by chance are termed as familial cancers. They occur due to an inherited genetic mutation and account for 5%-10% of all cancers. This review article presents some of the common Familial Cancer Syndromes (FCS) such as MEN 2B, hyperparathyroidism-jaw tumour syndrome, familial oral squamous cell carcinoma, melanoma, nasopharyngeal carcinoma, paraganglioma, neurofibroma and other syndromes associated with head and neck region. Read More

    Large Solitary Neurofibroma of Face in a Paediatric Patient.
    J Clin Diagn Res 2017 Jun 1;11(6):ZD04-ZD06. Epub 2017 Jun 1.
    Postgraduate Student, Department of Prosthodontics, School of Dental Sciences, Karad, Maharashtra, India.
    Neurofibroma is a rare, benign, neurogenic tumour which may present as multiple lesions as a part of neurofibromatosis syndrome or as a solitary mass. This paper reports a case of large solitary neurofibroma of face in a young female patient. Clinical presentation, imaging characteristics and management of the pathology has been described in detail. Read More

    Giant fibro epithelial polyp in a young girl: A rare case report.
    Int J Surg Case Rep 2017 15;38:83-85. Epub 2017 Jul 15.
    Department of Pathology, All India Institute of Medical Sciences, Patna, India. Electronic address:
    Introduction: Fibro epithelial Polyp (FEP) is a polypoid outgrowth of epidermis and dermal fibro vascular tissue. This polyp is most commonly found in oral cavity, neck and axilla, though any skin fold may be affected like groin. These polyps are usually less than 5cm in size and rarely occur before 4th decade of life. Read More

    Homocystinuria (HC) and Neurofibromatosis Type-1 (NF-1): An Unusual Presentation in a Child.
    J Coll Physicians Surg Pak 2016 Nov;26(11):140-141
    Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Military Hospital, Rawalpindi.
    Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations. HC is a neurocutaneous autosomal recessive condition while NF-1 is an autosomal dominant phacomatosis. Both HC and NF-1 present with distinct systemic as well as ocular manifestations; however, vascular complications can occur in both the conditions. Read More

    Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.
    PLoS One 2017 23;12(6):e0178639. Epub 2017 Jun 23.
    Children's Tumor Foundation, New York, United States of America.
    The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient. The rarity and variability of these disorders has made it challenging for investigators to identify sufficient numbers of patients with particular clinical characteristics or specific germline mutations for participation in interventional studies. Similarly, because the natural history of all types of neurofibromatosis (NF) is variable and unique for each individual, it is difficult to identify meaningful clinical outcome measures for potential therapeutic interventions. Read More

    Doxycycline potentiates antitumor effect of 5-aminolevulinic acid-mediated photodynamic therapy in malignant peripheral nerve sheath tumor cells.
    PLoS One 2017 30;12(5):e0178493. Epub 2017 May 30.
    Department of Biochemical Science and Technology, National Taiwan University, Taipei, Taiwan.
    Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. Some NF1 patients develop benign large plexiform neurofibroma(s) at birth, which can then transform into a malignant peripheral nerve sheath tumor (MPNST). There is no curative treatment for this rapidly progressive and easily metastatic neurofibrosarcoma. Read More

    Acral Plexiform Palisaded Encapsulated Neuromas as the Initial Cutaneous Manifestation of Cowden Syndrome.
    Pediatr Dermatol 2017 Jul 23;34(4):e219-e220. Epub 2017 May 23.
    Department of Dermatology, University of Texas Southwestern Medical Center and Children's Health, Dallas, Texas.
    Cowden syndrome (CS) is an autosomal dominant genodermatosis associated with characteristic mucocutaneous findings of facial trichilemmomas, palmoplantar keratoses, sclerotic fibromas, and oral papillomas. Mucocutaneous neuromas have also been reported in association with CS. We describe a patient with CS whose sole cutaneous finding was palisaded encapsulated neuromas (PENs) with a plexiform growth pattern in an acral location. Read More

    Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1.
    An Bras Dermatol 2017 Mar-Apr;92(2):249-252
    Department of Oral Pathology, Universidade Federal do Rio Grande do Norte (UFRN) - Natal (RN), Brazil.
    We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. Read More

    Repeated haemorrhages in peripheral nerve sheath tumours of the salivary glands after minor injury.
    Br J Oral Maxillofac Surg 2017 Sep 17;55(7):e35-e37. Epub 2017 May 17.
    Department of Oral and Maxillofacial Surgery, Faculty of Medicine, Fukuoka University. Electronic address:
    Repeated haemorrhages in peripheral nerve sheath tumours of the salivary glands are rare. We report the case of a patient with neurofibromatosis type 1 who had two episodes of massive haemorrhage in his right parotid gland the day after a minor injury. Oral and maxillofacial surgeons should be aware that vasculopathy may occur in patients with these tumours. Read More

    Subgemmal neurogenous plaque of the tongue: a report of three cases.
    Oral Maxillofac Surg 2017 Sep 10;21(3):351-355. Epub 2017 May 10.
    Department of Dentistry, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
    Subgemmal neurogenous plaque (SNP) is a biphasic neural structure associated with the taste buds. Clinically, SNP usually presents as an asymptomatic, normally colored, papule located in the posterior lateral border of the tongue. Accurate diagnosis is based only on histopathological examination, which shows a superficial neurofibroma-like pattern and a neuroma-like in the deep zone. Read More

    Sella turcica measurements on lateral cephalograms of patients with neurofibromatosis type 1.
    GMS Interdiscip Plast Reconstr Surg DGPW 2017 23;6:Doc05. Epub 2017 Mar 23.
    Department of Orthodontics, Eppendorf University Hospital, University of Hamburg, Germany.
    The aim of this study was to measure line segments and areas of sella turcica on lateral cephalograms with respect to the clinical diagnosis of facial phenotype of patients with neurofibromatosis type 1 (NF1). Special attention was given to correlate the measured values with certain tumour types that are typical for this disease. Lateral cephalograms of 194 individuals were investigated. Read More

    Intraosseous Neurofibroma of the Mandible: A Case Report and Review of Literature.
    J Clin Diagn Res 2017 Feb 1;11(2):ZD06-ZD08. Epub 2017 Feb 1.
    Postgraduate Student, Department of Oral Pathology and Microbiology, Sinhgad Dental College & Hospital , Pune, India .
    Neurofibroma (NF) is a benign tumor of the peripheral nervous system. Head and neck NF are generally located in the soft tissue. The tumour is rarely seen intraosseously and most commonly such tumours are seen as solitary lesions, rather than part of neurofibromatosis. Read More

    A lateral cephalometry study of patients with neurofibromatosis type 1.
    J Craniomaxillofac Surg 2017 Jun 20;45(6):809-820. Epub 2017 Feb 20.
    Orthodontics, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Purpose: Neurofibromatosis type 1 (NF1) is an autosomal dominant transmitted tumour suppressor syndrome and also a bone disease. Osseous dysplasia affecting the craniofacial region is characteristic of NF1. The aim of this study was to analyse the lateral cephalograms of NF1 patients in comparison to individuals who were not affected by this condition in order to describe the skeletal phenotype of NF1 in more detail. Read More

    Facial emotion recognition, face scan paths, and face perception in children with neurofibromatosis type 1.
    Neuropsychology 2017 May 20;31(4):361-370. Epub 2017 Mar 20.
    Murdoch Childrens Research Institute.
    Objective: This study aimed to investigate face scan paths and face perception abilities in children with Neurofibromatosis Type 1 (NF1) and how these might relate to emotion recognition abilities in this population.

    Method: The authors investigated facial emotion recognition, face scan paths, and face perception in 29 children with NF1 compared to 29 chronological age-matched typically developing controls. Correlations between facial emotion recognition, face scan paths, and face perception in children with NF1 were examined. Read More

    Update from the 4th Edition of the World Health Organization of Head and Neck Tumours: Tumours of the Oral Cavity and Mobile Tongue.
    Head Neck Pathol 2017 Mar 28;11(1):33-40. Epub 2017 Feb 28.
    Emory University School of Medicine, Atlanta Oral Pathology, 2701 N. Decatur Road, Decatur, GA, 30033, USA.
    There have been several additions and deletions in Chapter 4 on Tumours of the oral cavity and mobile tongue in the 2017 fourth edition of the World Health Organization Classification of Tumours of the Head and Neck. This chapter excludes the oropharynx, which now is a stand-alone chapter acknowledging the uniqueness of the oropharynx from the oral cavity. New entries in Chapter 4 include rhabdomyoma, haemangioma, schwannoma, neurofibroma and myofibroblastic sarcoma in the section titled Soft tissue and neural tumours. Read More

    Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.
    N Engl J Med 2016 12;375(26):2550-2560
    From the Center for Cancer Research, Pediatric Oncology Branch, Bethesda (E.D., A. Baldwin, L.J.M., P. Whitcomb, S.M., R.E., P. Wolters, J.T., J.G., A.J.S., A.G., B.C.W.) and the Cancer Therapy Evaluation Program, Shady Grove (A.L.D.), National Cancer Institute, and the National Heart, Lung, and Blood Institute (A. Brofferio), Bethesda, National Institutes of Health, and the Food and Drug Administration, Silver Spring (L.J.M., R.E.) - all in Maryland; the Division of Oncology, Children's Hospital of Philadelphia, and the Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (M.J.F., J.B.B.); Children's National Health System, Washington, DC (A.K.); and Cincinnati Children's Hospital, Cincinnati (B.W., L.E.A.-S., T.A.R., J.W., E.S., N.R.).
    Background: Effective medical therapies are lacking for the treatment of neurofibromatosis type 1-related plexiform neurofibromas, which are characterized by elevated RAS-mitogen-activated protein kinase (MAPK) signaling.

    Methods: We conducted a phase 1 trial of selumetinib (AZD6244 or ARRY-142886), an oral selective inhibitor of MAPK kinase (MEK) 1 and 2, in children who had neurofibromatosis type 1 and inoperable plexiform neurofibromas to determine the maximum tolerated dose and to evaluate plasma pharmacokinetics. Selumetinib was administered twice daily at a dose of 20 to 30 mg per square meter of body-surface area on a continuous dosing schedule (in 28-day cycles). Read More

    Reconstruction with soft tissue free flaps for large defects after the resection of giant facial neurofibroma.
    Int J Oral Maxillofac Surg 2017 Apr 18;46(4):440-446. Epub 2016 Dec 18.
    Department of Oral & Maxillofacial - Head & Neck Oncology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:
    Giant facial neurofibroma leads to disfigurement and functional and neurological deficits. Surgical resection is the mainstay of treatment and poses a great challenge to the surgeon with regard to the restoration of the defects arising from tumour resection. The cases of three male and three female patients diagnosed with giant facial neurofibroma, who underwent radical resection and reconstruction with soft tissue free flaps between 2008 and 2015, were analyzed retrospectively. Read More

    Atrial septostomy and disease targeting therapy in pulmonary hypertension secondary to neurofibromatosis.
    BMC Pulm Med 2016 12 7;16(1):175. Epub 2016 Dec 7.
    Department of Cardiology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilp. Kiriakidi 1, Thessaloniki, 54637, Greece.
    Background: Neurofibromatosis type 1 (NF1) is a rare multisystem genetic disorder. During the course of the disease it can be rarely complicated with pulmonary hypertension (PH) which confers a dismal prognosis.

    Case Presentation: We describe the case of a 57-year-old female patient with NF1 complicated by severe precapillary PH despite dual disease-specific oral combination therapy. Read More

    Solitary Non Syndromic Oral Plexiform Neurofibroma: a Case Report and Review of Literature.
    J Dent (Shiraz) 2016 Sep;17(3 Suppl):293-296
    Head of Dental Dept., Yashwantrao Chavan Memorial Hospital, Pimpri, Pune, India.
    In oral cavity neurogenic tumors are rare, especially if they are malignant. Neurofibromas are the benign tumors of nerve sheath origin involving multiple nerve fascicles of the smaller branches of peripheral nerves. They may present as solitary lesions or as a part of generalized syndrome of neurofibromatosis also known as von Recklinghausen's disease (VRD) or very rarely as multiple neurofibromas without VRD. Read More

    Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female.
    Case Rep Dent 2016 20;2016:3630153. Epub 2016 Jul 20.
    Department of Oral & Maxillofacial Pathology, Guru Nanak Institute of Dental Sciences & Research, 157/F Nilgunj Road, Panihati, Kolkata 700114, India.
    Neurofibromas are benign tumors of nerve cell origin arising due to proliferation of Schwann cells and fibroblasts. They are usually asymptomatic and hence remain undiagnosed. They are commonly found on the skin and intraorally tongue is the most common site for their occurrence. Read More

    Malignant Peripheral Nerve Sheath Tumor -A Rare Malignancy in Mandible.
    J Clin Diagn Res 2016 Jun 1;10(6):ZD12-3. Epub 2016 Jun 1.
    Post Graduate Student, Department of Oral Pathology and Microbiology, GITAM Dental College and Hospital , Rushikonda, Visakhapatnam, India .
    Malignant Peripheral Nerve Sheath Tumor (MPNST) is biologically an aggressive tumor that is usually found in the extremities, trunk and infrequently found in the head and neck area particularly in the jaws, arising from the cells allied with nerve sheath. Mandibular MPNST may either arise from a preexisting neurofibroma or develop de novo. Because of the greater variability from case to case in overall appearance both clinically and histologically, a case of MPNST of the mandible in a 25-year-old female patient is reported. Read More

    Neurogenic tumors and tumor-like lesions of the oral and maxillofacial region: A clinicopathological study.
    Saudi Dent J 2016 Apr 10;28(2):76-9. Epub 2016 Feb 10.
    Department of Oral Medicine and Diagnostic Sciences, College of Dentistry, King Saud University, Riyadh, Saudi Arabia.
    Objective: Oral and maxillofacial lesions of neural origin are rare soft tissue neoplasms. The aim of the present study is to review the epidemiological data of oral and maxillofacial neurogenic lesions submitted for diagnosis to our laboratory over a 31-year period (August 1984-March 2015).

    Materials And Methods: The available formalin-fixed embedded specimens, Hematoxylin and Eosin slides, demographic and clinical data were retrieved. Read More

    Optic Pathway Glioma and Cerebral Focal Abnormal Signal Intensity in Patients with Neurofibromatosis Type 1: Characteristics, Treatment Choices and Follow-up in 134 Affected Individuals and a Brief Review of the Literature.
    Anticancer Res 2016 Aug;36(8):4095-121
    Department of Oral and Cranio-Maxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Unlabelled: Optic pathway glioma (OPG) is a rare neoplasm and a defining feature of neurofibromatosis type 1 (NF1), a tumor suppressor genetic disorder. OPG predominantly arises during childhood. In contrast to sporadic OPG, this neoplasm frequently appears to show a more favorable course. Read More

    Histopathological and Radiographic Analysis of Dental Follicle of Impacted Teeth Using Modified Gallego's Stain.
    J Clin Diagn Res 2016 May 1;10(5):ZC106-11. Epub 2016 May 1.
    Professor and PG Guide, Department of Oral and Maxillofacial Pathology and Microbiology, Padmashree Dr D Y Patil Dental College and Hospital , Navi Mumbai, Maharashtra, India .
    Introduction: In the WHO classification of odontogenic tumours, hard tissue formation has been considered as a sub-classification however, this parameter has not been much explored in dental follicle in literature. Epithelial-mesenchymal interactions play an important role in odontogenesis and its associated pathologies; therefore research on dental follicle should also include mesenchymal components along with epithelial components. Additionally, special stains to identify the nature of such depositions in dental follicle have been less explored. Read More

    Growth Hormone Excess in Children with Optic Pathway Tumors Is a Transient Phenomenon.
    Horm Res Paediatr 2016 28;86(1):35-8. Epub 2016 Jun 28.
    Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Ill., USA.
    Background/aims: Growth hormone (GH) excess in children with chiasmal optic pathway tumors (OPT), often associated with neurofibromatosis type 1 (NF1), is likely underrecognized. These children have elevated insulin-like growth factor 1 (IGF-1) levels, evidence of rapid growth despite treatment of precocious puberty, and failure to suppress GH levels following oral glucose challenge. The aim of this report is to describe the treatment course and natural history of this rare clinical condition in 7 patients. Read More

    Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials.
    J Craniomaxillofac Surg 2016 Aug 15;44(8):1054-60. Epub 2016 May 15.
    Department of Human Genetics, Catholic University Leuven/University Hospital Leuven, Leuven, Belgium.
    Giant cell granuloma (GCG) of the jaw is a rare, well-known feature of neurofibromatosis type 1 (NF1), an inborn multisystem disorder. Recently, the development of GCG in NF1 was attributed to second hit mutations in the NF1 gene. The treatment of GCG is pragmatic with a preference for local curettage of lytic osseous areas. Read More

    Expansive Extracranial Growth of Intracranial Meningioma in Neurofibromatosis Type 2.
    Anticancer Res 2016 Jun;36(6):3161-7
    Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany.
    The purpose of this report is to detail three rare cases of neurofibromatosis type 2 (NF2) with symptomatic extracranial extension of intracranial meningioma. We present ocular findings, imaging techniques applied, pathological findings of the space-occupying lesions, and therapy. One of these patients, the daughter of one of the other individuals, presented with a large neck mass, but no surgically treatable findings associated with the external growth of the meningioma. Read More

    The importance of nerve microenvironment for schwannoma development.
    Acta Neuropathol 2016 Aug 28;132(2):289-307. Epub 2016 May 28.
    Leibniz Institute on Aging, Fritz Lipmann Institute, Beutenbergstrasse 11, 07745, Jena, Germany.
    Schwannomas are predominantly benign nerve sheath neoplasms caused by Nf2 gene inactivation. Presently, treatment options are mainly limited to surgical tumor resection due to the lack of effective pharmacological drugs. Although the mechanistic understanding of Nf2 gene function has advanced, it has so far been primarily restricted to Schwann cell-intrinsic events. Read More

    Solitary neurofibroma: a rare occurrence on gingiva.
    Gen Dent 2016 May-Jun;64(3):28-31
    Neurofibromas-benign, slow-growing nerve sheath neoplasms composed of Schwann cells, perineural cells, and fibroblasts-are common neurogenic tumors on skin but uncommon intraorally. A diagnosis of neurofibroma can be established by clinical and histologic examinations. This case report describes an unusual presentation of solitary neurofibroma on the lingual gingiva of the mandibular posterior region of a 22-year-old woman. Read More

    No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
    Hum Genet 2016 May 11;135(5):469-75. Epub 2016 Mar 11.
    Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany.
    Neurofibromatosis type 1 (NF1) is a common monogenic disorder whereby affected individuals are predisposed to developing CNS tumors, including optic pathway gliomas (OPGs, occurring in ~15 to 20 % of cases). So far, no definite genotype-phenotype correlation determining NF1 patients at risk for tumor formation has been described, although enrichment for mutations in the 5' region of the NF1 gene in OPG patients has been suggested. We used whole exome sequencing, targeted sequencing, and copy number analysis to screen 77 unrelated NF1 patients with (n = 41) or without (n = 36; age ≥10 years) optic pathway glioma for germline NF1 alterations. Read More

    Intraoral ultrasonography of tongue mass lesions.
    Dentomaxillofac Radiol 2016 24;45(5):20150362. Epub 2016 Mar 24.
    2 Department of Oral Surgery, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
    Objectives: To demonstrate the usefulness of intraoral ultrasonography (IOUS) for tongue mass lesions, we analyzed surgery cases excluding squamous-cell carcinoma and leukoplakia and compared IOUS and pathological findings.

    Methods: We used the hospital information system and Radiology Information System to evaluate the IOUS and pathological findings of patients who underwent surgeries for tongue masses in the past 11 years.

    Results: Surgeries for the tongues were performed in 268 cases. Read More

    The Solitary Variant of Mandibular Intraosseous Neurofibroma: Report of a Rare Entity.
    Case Rep Dent 2015 6;2015:520261. Epub 2015 Dec 6.
    Department of Oral Medicine and Radiology, Narsinhbhai Patel Dental College and Hospital, Visnagar, Gujarat 384315, India.
    Neurofibroma (NF) is a benign neoplasm derived from peripheral nerve cells. NF may extend either as a solitary lesion or as part of a generalized syndrome of neurofibromatosis. Intraorally, the intraosseous variant of neurofibroma is a very rare tumor. Read More

    Head and Neck Schwannomas: 20-Year Experience of a Single Institution Excluding Cutaneous and Acoustic Sites.
    Head Neck Pathol 2016 Sep 8;10(3):286-91. Epub 2016 Jan 8.
    Department of Pathology, University of Michigan, Ann Arbor, MI, USA.
    While head and neck sites comprise the most common location of schwannomas, clinicopathologic data regarding those tumors occurring in non-acoustic and non-cutaneous locations are relatively sparse. In this study, therefore, we sought to examine retrospectively the clinical and pathologic features of head and neck schwannomas excised at our institution over a 20-year period. During this period, we identified a total cohort of 85 patients, which included 36 males (42. Read More

    Neurofibromas of the Oral Cavity: Clinical Aspects, Treatment, and Outcome.
    Photomed Laser Surg 2016 Feb 18;34(2):56-60. Epub 2015 Dec 18.
    Department of Surgical Medical Sciences and Integrated Diagnostic, University of Genoa , Genoa, Italy .
    Objective: This study aimed to evaluate the efficacy of diode laser for the surgical treatment of neurofibromas (NF), in terms of clinical outcome and therapeutic success.

    Background Data: The NF is a benign tumor of the peripheral nerve sheath, characterized by the proliferation of Schwann cells, perineural cells, and endoneural fibroblasts. NF may occur as a solitary lesion, or as part of a generalized neurofibromatosis syndrome; much more rarely it occurs in the form of multiple neurofibromas with no associated syndrome. Read More

    Unilateral gynaecomastia in a 16-month-old boy with neurofibromatosis type 1 - case report and brief review of the literature.
    GMS Interdiscip Plast Reconstr Surg DGPW 2015 3;4:Doc11. Epub 2015 Dec 3.
    Department of Neurology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that shows high penetrance with a wide variability in the phenotype. Prepubertal enlargement of the breast in male subjects affected by this condition is well known, but rarely reported. The present case report describes diagnosis and therapy of unilateral gynaecomastia in a toddler showing integumental stigmata of NF1. Read More

    Ipsilateral Sphenoid Wing Dysplasia, Orbital Plexiform Neurofibroma and Fronto-Parietal Dermal Cylindroma in a Patient with Segmental Neurofibromatosis.
    Anticancer Res 2015 Dec;35(12):6813-8
    Neurology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Neurofibromatosis type 1 (NF1) is an autosomal-dominant inherited disease affecting various parts of the body. Penetrance is almost complete but the phenotype varies considerably. Recently, mosaicism in NF1 has come into the focus of scientific interest. Read More

    Vascular Innervation in Benign Neurofibromas of Patients with Neurofibromatosis Type 1.
    Anticancer Res 2015 Dec;35(12):6509-16
    Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany.
    Unlabelled: Neurofibroma constitutes a heterogeneous group of solid tumours occurring sporadically or in association with syndromes. The aspect of these peripheral nerve sheath tumours may vary considerably, with disseminated tumours covering various parts of the body or nodular/diffuse plexiform neurofibroma that can grow to an impressive size. Although neurofibromas have vascular density comparable to that of normal tissue, they have tendency to bleed upon surgery which is poorly understood. Read More

    Anti-VEGF treatment improves neurological function and augments radiation response in NF2 schwannoma model.
    Proc Natl Acad Sci U S A 2015 Nov 9;112(47):14676-81. Epub 2015 Nov 9.
    Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114;
    Hearing loss is the main limitation of radiation therapy for vestibular schwannoma (VS), and identifying treatment options that minimize hearing loss are urgently needed. Treatment with bevacizumab is associated with tumor control and hearing improvement in neurofibromatosis type 2 (NF2) patients; however, its effect is not durable and its mechanism of action on nerve function is unknown. We modeled the effect anti-VEGF therapy on neurological function in the sciatic nerve model and found that it improves neurological function by alleviating tumor edema, which may further improve results by decreasing muscle atrophy and increasing nerve regeneration. Read More

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