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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

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 2018 Nov 15. Epub 2018 Nov 15.

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

Orphanet J Rare Dis 2018 06 25;13(1):98. Epub 2018 Jun 25.

Graduate Program in Pathology, School of Medicine, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil.

Background: Neurofibromatosis 1 (NF1) presents a wide range of clinical manifestations, including bone alterations. Studies that seek to understand cellular and molecular mechanisms underlying NF1 orthopedic problems are of great importance to better understand the pathogenesis and the development of new therapies. Dental pulp stem cells (DPSCs) are being used as an in vitro model for several diseases and appear as a suitable model for NF1. Read More

Rom J Morphol Embryol 2018 ;59(1):385-390

Department of Medical and Surgical Sciences, University of Cantabria, Santander, Spain;

The plexiform variant of spindle cell lipoma is very uncommon. In fact, as far as we are aware only seven cases have been previously reported. We describe herein the case of a 49-year-old man with a smooth nodule of the mucosa of the lower lip that was gradually increasing. Read More

Head Neck Pathol 2018 Jun 21. Epub 2018 Jun 21.

Oral and Maxillofacial Diagnostic Sciences College of Dentistry, University of Florida, 1395 Center Dr, Gainesville, FL, 32610, USA.

Intraoral neural neoplasms though unusual may be clinically significant. The aim of this study was to categorize and evaluate oral neural tumors in a large oral pathology biopsy service. With IRB approval, a retrospective search of all neural neoplasms of the oral cavity in the archives of the University of Florida Oral Pathology Biopsy Service spanning from 1994 to 2015 was performed. Read More

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

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

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

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

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

Med Oral Patol Oral Cir Bucal 2018 Mar 1;23(2):e168-e179. Epub 2018 Mar 1.

School of Medicine, Hospital Universitário Antônio Pedro, Universidade Federal Fluminense, Av. Marquês do Paraná, 303, 4o andar, sala 01, Centro, Niterói, RJ, Brazil, Zip code: 24033-900,

Background: Oral manifestations are common in neurofibromatosis 1 (NF1), and include jaws and teeth alterations. Our aim was to investigate the craniomaxillofacial morphology of Brazilian children, adolescents and adults with NF1 using cone beam computed tomography.

Material And Methods: This study was conducted with 36 Brazilian individuals with NF1 with ages ranging from 4 to 75. Read More

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

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

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

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

J Coll Physicians Surg Pak 2017 Nov;27(11):738

Department of Oral and Maxillofacial Pathology, NIMS Dental College, Jaipur, India.

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

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

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

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

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

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

Orthod Craniofac Res 2017 Jun;20 Suppl 1:32-38

Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.

Objectives: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

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

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

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

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

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

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

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

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

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

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