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    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

    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

    Subgemmal neurogenous plaque of the tongue: a report of three cases.
    Oral Maxillofac Surg 2017 May 10. 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. Material and methods: 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

    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

    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

    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

    Reversible Growth Hormone Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma.
    Horm Res Paediatr 2015 22;84(6):414-22. Epub 2015 Oct 22.
    Pediatric Department, Royal Marsden NHS Foundation Trust, London, UK.
    Background: A total of 12 children with neurofibromatosis type 1 (NF-1) with optic pathway glioma (OPG) and growth hormone (GH) excess are reported to date, but no data exist on the long-term outcome. We describe 2 girls with NF-1 with OPG and GH excess treated with somatostatin analogue (SSa) who maintained a normal GH axis after stopping SSa therapy.

    Methods: The diagnosis of GH excess was established from auxological data, persistently high levels of insulin-like growth factor 1 (IGF-1) and a lack of GH suppression during an oral glucose tolerance test. Read More

    Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
    Am J Med Genet A 2015 Dec 14;167A(12):3186-91. Epub 2015 Sep 14.
    Division of Pediatric Hematology and Oncology, University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota.
    We report a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. Read More

    Motor impairment in children with Neurofibromatosis type 1: Effect of the comorbidity with language disorders.
    Brain Dev 2016 Feb 29;38(2):181-7. Epub 2015 Aug 29.
    Unité de Neurologie Pédiatrique, Hôpital des Enfants, Toulouse, France; Inserm, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, CHU Purpan, Place du Dr Baylac, F-31059 Toulouse Cedex 9, France; Université de Toulouse, UPS, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, CHU Purpan, Place du Dr Baylac, F-31059 Toulouse Cedex 9, France.
    Background: There is a body of evidence demonstrating comorbidity of motor and cognitive deficit in «idiopathic» developmental disorders. These associations are also found in developmental disorders secondary to monogenic disorders as in Neurofibromatosis type 1 for which the principal complication during childhood is learning disabilities. The comparison of motor impairment between developmental disorders either idiopathic or secondary as in NF1 could help us to better understand the cause of the combined language/motor deficit in these populations. Read More

    Effect of distraction osteogenesis in patient with tibial shortening after initial union of Congenital Pseudarthrosis of the Tibia (CPT): a preliminary study.
    BMC Musculoskelet Disord 2015 Aug 21;16:216. Epub 2015 Aug 21.
    Dept of Orthopedics, Hunan Children's Hospital, The Pediatric Academy of University of South China, 86 Ziyuan road, Changsha, Hunan, P.R. China.
    Background: The purpose of our retrospective study was to evaluate the preliminary result of distraction osteogenesis in patient with tibial shortening after initial union of Congenital Pseudarthrosis of the Tibia (CPT).

    Methods: All the CPT cases with tibial shortening after initial union managed by proximal tibial lengthening using Ilizarov technique were identified. All the patient charts and radiograms were reviewed. Read More

    Vessel and Mast Cell Densities in Sporadic and Syndrome-associated Peripheral Nerve Sheath Tumors.
    Anticancer Res 2015 Sep;35(9):4713-22
    Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany.
    Background/aim: Peripheral nerve sheath (PNS) tumors constitute a heterogeneous group of solid tumors. Neurofibroma and schwannoma are the most frequently diagnosed entities. Both tumor types occur sporadically and are associated with syndromes. Read More

    Dirofilariasis involving the oral cavity: report of the first case from South America.
    Rev Soc Bras Med Trop 2015 May-Jun;48(3):361-3
    Faculdade de Odontologia, Universidade Federal da Paraíba, João Pessoa, Paraíba, Brazil.
    Oral dirofilariasis is very rare with non-specific clinical manifestations. Here, we report the case of a 65-year-old South American woman with a submucosal nodule on her right buccal mucosa. The nodule was slightly tender and painful. Read More

    BRAF V600E and loss of heterozygosity assessment in benign oralneural tumours.
    J Oral Pathol Med 2015 Sep 15;44(8):634-7. Epub 2015 Jun 15.
    Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
    Background: The purpose of this study was to evaluate loss of heterozygosity (LOH) and to assess BRAF V600E mutation in oral neurofibromas, palisaded encapsulated neuromas (PEN) and schwannomas.

    Methods: Six oral neurofibroma, 5 PEN and 3 schwannoma samples were included in the study. LOH was assessed using polymorphic microsatellite markers at chromosome regions 3p (marker D3S1029), 9p (markers D9S171, D9S162, D9S157), 11q (marker D11S1369), and 17p (markers AFM238WF2 and P53), and results were evaluated after capillary electrophoresis. Read More

    Schwannoma of the cheek: clinical case and literature review.
    J Maxillofac Oral Surg 2015 Jun 3;14(2):327-31. Epub 2013 Mar 3.
    V.S.P.M. Dental College, Nagpur, 440009 Maharashtra India.
    Introduction: Schwannoma is a relatively uncommon benign tumor that apparently originates from Schwann cells of peripheral nerves. The most common intraoral site is the tongue followed by the palate, floor of mouth, buccal mucosa, lips and the jaws. The preoperative diagnosis is often difficult, and in the majority of cases, the diagnosis can only be made during surgery and by histological study. Read More

    A Rare Case Report of Neurofibromatosis I in HIV Positive Individual.
    J Clin Diagn Res 2015 Apr 1;9(4):ZD20-2. Epub 2015 Apr 1.
    PG Student, Department of Oral Medicine and Maxillofacial Radiology, Modern Dental College & Research Centre , Indore, Madhya Pradesh, India .
    Neurofibroma is an uncommon benign tumour of neural tissue origin rarely presenting in the mouth and jaws and thereby attracting the attention of oral physicians. A 22-year-old male patient reported with a complaint of swelling in left middle one third region of face since 8-10 y which was slowly progressive in size. He had history of multiple dark brown pigmentation on skin associated with progressively enlarging multiple small nodular growths over the body and single firm nodular growth in left side of maxilla intraorally. Read More

    Ketotifen suppression of NF1 neurofibroma growth over 30 years.
    Am J Med Genet A 2015 Jul 14;167(7):1570-7. Epub 2015 May 14.
    The Neurofibromatosis Institute, La Crescenta, California.
    A patient with NF1 was treated with oral ketotifen for 30 years since infancy. Review of the patient's course and treatment details establishes a basis for reconsideration of several fundamental precepts about NF1 pathogenesis. The data suggest a distinctive benefit to treating an NF1 patient with an inhibitor of mast cell degranulation before cutaneous neurofibromas are clinically apparent: the neurofibromas appear to be arrested at a very early stage of development. Read More

    Preclinical assessment of the anticancer drug response of plexiform neurofibroma tissue using primary cultures.
    J Clin Neurol 2015 Apr;11(2):172-7
    Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Oral and Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
    Background And Purpose: Individualized drug testing for tumors using a strategy analogous to antibiotic tests for infectious diseases would be highly desirable for personalized and individualized cancer care.

    Methods: Primary cultures containing tumor and nontumor stromal cells were utilized in a novel strategy to test drug responses with respect to both efficacy and specificity. The strategy tested in this pilot study was implemented using four primary cultures derived from plexiform neurofibromas. Read More

    Neurofibroma of facial nerve presenting as parotid mass.
    J Maxillofac Oral Surg 2015 Mar 26;14(Suppl 1):465-8. Epub 2014 Aug 26.
    Department of Cardiothoracic Surgery, PGIMER Dr. RML Hospital, New Delhi, India.
    Neurogenic neoplasms presenting as parotid gland tumors are extremely uncommon. We present the case of a solitary neurofibroma of the facial nerve within the parotid gland occurring in a 36-year-old male who presented with a painless enlargement in the right-side region of the parotid gland over a period of 1 year with normal facial nerve function. Magnetic resonance imaging revealed a well-demarcated round mass within the right parotid. Read More

    Oral manifestations of neurofibromatosis type 1 in children with facial plexiform neurofibroma: report of three cases.
    J Clin Pediatr Dent 2015 ;39(2):168-71
    Department of Microbiology and Immunology, School of Medicine, Serra dos Órgãos University Center (UNIFESO), Teresópolis, RJ, Brazil.
    Neurofibromatosis type 1 (NF1) is a common autosomal genetic disorder with a prevalence of 1 in 3,000 births. NF1 is a complex syndrome characterized by many abnormalities and may affect all organ systems. Oral manifestations of NF1 occur frequently, but reports including NF1 children with facial plexiform neurofibromas and oral alterations are scant. Read More

    An unusual oral manifestation of type 1 neurofibromatosis: A case report and review of literature.
    J Nat Sci Biol Med 2015 Jan-Jun;6(1):261-3
    Department of Oral Medicine and Radiology, Indira Gandhi Institute of Dental Sciences, Pondicherry, India.
    Neurofibroma is a benign peripheral nerve sheath tumor and is the most frequent tumor of neural origin. Its presence is one of the clinical criteria for the diagnosis of neurofibromatosis type 1 (NF1; a common hereditary disease occurring in one out of every 3000 births). The diagnosis can sometimes be made at birth, while in others the diagnosis is made later in life after the appearance of additional clinical criteria. Read More

    Quality of Life (QoL) Assessment in Patients with Neurofibromatosis Type 2 (NF2).
    Otolaryngol Head Neck Surg 2015 Oct 16;153(4):599-605. Epub 2015 Mar 16.
    Department of Neurosurgery, New York University, New York, New York, USA Department of Otolaryngology, New York University, New York, New York, USA.
    Objective: The aim of this study was to develop a multidimensional metric for assessing quality of life (QoL) in patients with neurofibromatosis type 2 (NF2).

    Study Design: Electronically distributed questionnaire.

    Setting: University tertiary care hospital, NF2 support groups. Read More

    Malignant peripheral nerve sheath tumor: A rarity.
    Indian J Dent 2015 Jan-Mar;6(1):53-6
    Department of Oral Medicine and Radiology, MNR Dental College and Hospital, Sangareddy, Telangana, India.
    Malignant peripheral nerve sheath tumor (MPNST) of the mandible is an uncommon tumor that develops either from a preexisting neurofibroma or de novo. MPNSTs are sarcomas that originate from peripheral nerves or from cells associated with the nerve sheath, such as Schwann cells, perineural cells or from fibroblasts. Because MPNSTs can arise from multiple cell types, the overall appearance can vary greatly from one case to the next. Read More

    High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case-control study.
    Orphanet J Rare Dis 2015 Feb 28;10:24. Epub 2015 Feb 28.
    Background: Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases in humans and has widely variable expressivity. Oral manifestations are common, but there are no studies that investigated functional alterations in salivary glands in NF1. Our aim was to evaluate the salivary flow rate in NF1 individuals, comparing to a control group, and to investigate the possible causes and some consequences of salivary gland alteration. Read More

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