Neurofibromatosis: Phenotype, Natural History and Pathogenesis

Neurofibroma in the articular disc of the temporomandibular joint : a case report

Introduction Plexiform neurofibroma with neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare entity and occurs in approximately 5–15% patients. These are slow growing, painless and locally infiltrating tumors. The pattern of inheritance is autosomal dominant and its penetrance is almost complete by 5 years of age. Presentation of case We hereby report a case of 13 years old boy visited presenting with swelling of right eyelid and forehead. After surgical removal, the tissue was sent for histopathological evaluation. Microscopy revealed an unencapsulated tumor mass comprising of well organized mixture of multiple nerve bundles with interlacing neural tissue in background of spindle shaped cells along with myxoid areas and numerous blood vessels. Discussion The NF1 gene responsible for the disease is located on chromosome 17 at locus 17q11.2 that codes for the protein neurofibromin. The frequency of neomutations is particularly high and almost half of the cases are sporadic. NF1 is characterized by a wide variability of clinical expressions, even within a given family. Majority of patients can be diagnosed only after thorough physical examination. Conclusion The wide variation of the clinical expression, the tumor risk and the totally unpredictable evolution of the disease impose regular monitoring of NF1 patients. This surveillance is mainly clinical and has to be adapted to the patient's age in order to assure early management of complications.

Plexiform neurofibroma with neurofibromatosis type I/ von Recklinghausen's disease: A rare case report.

Neurofibromatosis is a systemic hereditary disorder that mainly affects the skin and nervous system. It was identified for the first time by Friedrich Von Recklinghausen, being called the Von Recklinghausen syndrome. Some of the clinical symptoms can be visible since birth, however, most of them start to show up during childhood and adolescenceand, in women, phenotype becomes evident during pregnancy, due to the severe hormonal changesthat occur.
The goal of this research was to understand the way type I neurofibromatosis can affect the oral cavity and how the dental doctor can help. For that, several papers were selected from the search on the websites Pubmed, Elsevier andUptoDateusing the following keywords: neurofibromatosis, oral health, neurofibroma, oral cancer, GTP, type 1 neurofibromatosis.
Concerning clinical features at the oral cavity, more than one fourth of patients with this disorder can show neurofibromas in the mouth, usually isolated.Phenotype can include increased fungiform papillae, head and neck polyps, nodules in the posterior portionof the back of the tongue, dental mobility caused by lesionsin the gingival-dental-alveolar complex, changes in the number of teeth, molar retention, dental calculus, aplasia of the second bottom molarsandadvanced periodontal disease. Bone changes can be present like subperiosteal erosion, hyperplasia, hypoplasia, dysplasia in the wings of the sphenoidandshortsize.Concerning therapeutic strategies, some studies suggest that proteins of the mTOR pathway (mammalian target of rapamycin) can be the target for therapyof this disease in case of malignant transformation.

https://jmbas.in/index.php/jmbas/article/download/107/77

Type 1neurofibromatosis and effects on the stomatognatic system

Background: Neurofibromas are rare benign tumors of neural origin, usually associated with Neurofibromatosis type 1, an autosomal dominantly inherited syndrome. However, they can also be solitary, and appear in the oral cavity. Gingival localization is rare and takes a hypertrophic form associated with an attachment loss that can mimic a plaque-inducedperiodontal disease. Case presentation: The patient was a 52-year-old female patient. She was mistakenly referred to our department for periodontal surgical debridement, whereas she presented a symptomatic gingival solitary neurofibroma. The surgical tumour excision allowed a good periodontal healing, and no recurrence was observed after 7 years. Conclusions: The aim of this case report was to illustrate the essential role of the dental clinician in the detection of tumoral non plaque-induced gingival diseases. Knowledge of these tumor characteristics facilitates a more comprehensive differential diagnosis approach, thus avoiding improper management or late diagnosis. *Correspondence to: Dridi Sophie-Myriam, UFR of Odontology, Department of Periodontology, Saint Roch Hospital, University of Nice Sophia Antipolis, France, E-mail: dr.sm.dridi@free.fr

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Gingival solitary Neurofibroma: mind the pitfalls! A case report

Neurofibromatosis type 1 (NF-1) is a common genetic disorder with a highly variable phenotype. The disease affects both proliferation and differentiation of cells of neurectodermal origin. The presence of tumors is very common like benign nodular neurofibromas. Tumors with unclear prognosis may be present like plexiform neurofibromas whose prognosis is more uncertain. While many organs exhibit pathologies, most commonly affected are the nervous system, skin, gastrointestinal tract and heart. Oral abnormalities are also very common: 72% of NF-1 patients exhibit pathologies in oral mucosa, gums, maxillary and temporomandibular joints, and teeth. The incidence of NF-1 and its relationship to the prevalence of caries have been discussed in other researches. It is known that poor oral hygiene plays a key role in the development of periodontal disease and caries. Here we review the oral manifestations of neurofibromatosis type 1 that we illustrate by a patient followed in the center of rare diseases of the hospital Henri Mondor, clinical service in which we work.

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Oral Manifestations of Neurofibromatosis Type 1

Mucous membrane pemphigoid (MMP) is a heterogeneous group of rare, chronic, subepithelial autoimmune blistering diseases (AIBDs) with predominant involvement of mucous membranes that can be sight-threatening and life-threatening. Rituximab (RTX) has demonstrated its efficacy in severe MMP refractory to conventional immunosuppressants in small series that differed in RTX scheme, concomitant therapies, and outcome definitions. In a meta-analysis involving 112 patients with MMP treated with RTX, complete remission (CR) was reported in 70.5% of cases. Herein, we report the largest retrospective monocentric study on RTX efficacy in a series of 109 severe and/or refractory patients with MMP treated with RTX with a median follow-up period of 51.4 months. RTX was administered in association with immunomodulatory drugs (dapsone, salazopyrine) without any other systemic immunosuppressant in 104 patients. The RTX schedule comprised two injections (1 g, 2 weeks apart), repeated every 6 months until CR or failure, with a unique consolidation injection (1 g) after CR. The median survival times to disease control and to CR were 7.1 months and 12.2 months, respectively. The median number of RTX cycles required to achieve CR in 85.3% of patients was two. The larynx was the lesional site that took the longest time to achieve disease control. One year after RTX weaning, CR off RTX was obtained in 68.7% of cases. CR off RTX with only minimum doses of immunomodulatory drugs was achieved in 22.0% of patients. Further, 10.1% of patients were partial responders and 4.6% were non-responders to RTX. Relapse occurred in 38.7% of cases, of whom 91.7% had achieved CR again at the last follow-up. In MMP, CR was achieved in a longer time and after more rituximab cycles than in pemphigus, especially for patients with MMP with anti-type VII collagen reactivity. RTX with concomitant immunomodulatory drugs was not responsible for an unusual proportion of adverse events. This large study confirms that RTX is an effective therapy in patients with severe and/or refractory MMP, corroborating previous findings regarding the effects of RTX on AIBDs such as pemphigus.

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Ishaï-Yaacov Sitbon

Papers

Oral Manifestations of Neurofibromatosis Type 1

Rituximab Therapy for Mucous Membrane Pemphigoid: A Retrospective Monocentric Study With Long-Term Follow-Up in 109 Patients