Segmental neurofibromatosis

Galhotra, Virat; Jindal, Sanjeev; Sheikh, Soheyl; Singla, Anshu

doi:10.4103/0975-962x.140847

Cited by 3 publications

(8 citation statements)

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“…Patients typically have neurofibromas and/or café au lait macules in a single unilateral segment of the body. It occurs as the result of a postzygotic mutation in the NF1 gene, causing somatic mosaicism [1][2][3][4][13][14][15][16].…”

Section: A B C Dmentioning

confidence: 99%

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Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis

Cohen

2016

DOJ

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BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body. PurposeA woman with segmental neurofibromatosis and triple cancer (renal cell carcinoma, mixed thyroid carcinoma, and lentigo maligna) is described and cancers observed in patients with segmental neurofibromatosis are reviewed. MethodsPubMed was used to search the following terms, separately and in combination: cancer, malignancy, mosaic, neoplasm, neurofibroma, neurofibromatosis, segment, segmental, tumor. ResultsMalignancy (13 cancers) has been observed in 11 segmental neurofibromatosis patients; one patient had three different cancers. The most common neoplasms were of neural crest origin {malignant peripheral nerve sheath tumor (3 patients) and melanoma (3 patients)] and gastrointestinal tract origin [colon (1 patient) and gastric (1 patient)]. Breast cancer, Hodgkin lymphoma, lung cancer, kidney cancer, and thyroid cancer each occurred in one patient. ConclusionsSimilar to patients with von Recklinghausen neurofibromatosis 1, individuals with segmental neurofibromatosis also have a genodermatosis-associated increased risk of developing cancer.

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Section: A B C Dmentioning

confidence: 99%

“…Segmental neurofibromatosis is a variant of neurofibromatosis 1 [1][2][3][4]. Patients with neurofibromatosis 1 have an increased risk for developing malignancy [5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis

Cohen

2016

DOJ

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“…В структуре заболевания также встречаются дисплазия или истощение компактного вещества длинных трубчатых и основной костей, сколиотическая деформация позвоночника, эпилепсия. Данный тип нейрофиброматоза вызывается мутацией в 17q11.2 хромосоме, в гене, кодирующем синтез белка нейрофибромина [1][2][3].…”

unclassified

“…Частота встречаемости данного типа нейрофиброматоза 1/33000. Нейрофиброматоз II типа развивается вследствие мутации гена, кодирующего синтез мембранного белка мерлина, и расположен в 22q12 хромосоме [2,4].…”

unclassified

“…Для нейрофиброматоза VI типа характерно наличие пятен «кофе с молоко» в сочетании с когнитивными нарушениями. VII тип, или «нейрофиброматоз с поздним началом», V. Riccardi описывает как развитие какой-либо формы нейрофиброматоза в третьем десятилетии или позже у больных без семейного анамнеза [2].…”

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Segmental neurofibromatosis with compression of the spinal cord at the cervical level. Literature review and case report

et al. 2022

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Background. Neurofibromatosis is a fairly rare disease (1/3000). In 1992, V. Riccardi described seven types of neurofibromatosis. Segmental neurofibromatosis (sh), also known as type V neurofibromatosis, is an extremely rare variant characterized by the development of typical cutaneous manifestations or one body segment neurofibromas. Clinical case. Currently, the literature describes about 100 cases of sh and only one of them with compression of the spinal cord. We present our first case of this nosological form with spinal cord compression in a Russian patient. A 70-year-old patient, due to an increasing paresis in the left extremities, underwent mri of the cervical spine, which revealed solid tumors located extramedullary intra-extradurally at the level of c2-c3 vertebrae with pronounced compression of the spinal cord. At the time of hospitalization, clinical presentation was characterized by deep spastic tetraparesis (1–2 points), impairment of all types of sensitivity from the c4 level by the conductive type, and dysfunction of the pelvic organs by the type of delay. Karnofsky index was 50 %, 2 points on the Fim scale. Standard c2-c3 vertebrae laminectomy was performed. Spinal cord compression was eliminated due to the removal of intradural tumors. Subsequently, extradural tumors were removed step by step. On histological examination, tumors were represented by intertwining bundles of elongated schwann cells with wavy nuclei with pointed ends and ileogenic fibers. Mucin present in the stroma separated cells and fibers. Conclusion. Sn is a rare type of neurofibromatosis. However, from the point of view of genetics, it is most likely incorrect to attribute it to a separate type of neurofibromatosis, since the cause of its development is mosaicism of somatic cells due to mutation of the NF 1 gene. Sn is rarely manifested by the development of spinal nerves multiple neurofibromas, however, it can be accompanied by a gross neurological deficit caused by compression of the spinal cord such neurofibromas. Surgical treatment is based on basic and special surgical principles that determine the anatomical and morphological characteristics of the area of intervention, the compliance of which allows for good treatment results.

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Extracranial Facial Nerve Schwannoma—Histological Surprise or Therapeutic Planning?

et al. 2023

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Schwannomas (neurilemomas) are benign, slow-growing, encapsulated, white, yellow, or pink tumors originating in Schwann cells in the sheaths of cranial nerves or myelinated peripheral nerves. Facial nerve schwannomas (FNS) can form anywhere along the course of the nerve, from the pontocerebellar angle to the terminal branches of the facial nerve. In this article, we propose a review of the specialized literature regarding the diagnostic and therapeutic management of schwannomas of the extracranial segment of the facial nerve, also presenting our experience in this type of rare neurogenic tumor. The clinical exam reveals pretragial swelling or retromandibular swelling, the extrinsic compression of the lateral oropharyngeal wall like a parapharyngeal tumor. The function of the facial nerve is generally preserved due to the eccentric growth of the tumor pushing on the nerve fibers, and the incidence of peripheral facial paralysis in FNSs is described in 20–27% of cases. Magnetic Resonance Imaging (MRI) examination is the gold standard and describes a mass with iso signal to muscle on T1 and hyper signal to muscle on T2 and a characteristic “darts sign.” The most practical differential diagnoses are pleomorphic adenoma of the parotid gland and glossopharyngeal schwannoma. The surgical approach to FNSs requires an experienced surgeon, and radical ablation by extracapsular dissection with preservation of the facial nerve is the gold standard for the cure. The patient’s informed consent is important regarding the diagnosis of schwannoma and the possibility of facial nerve resection with reconstruction. Frozen section intraoperative examination is necessary to rule out malignancy or when sectioning of the facial nerve fibers is necessary. Alternative therapeutic strategies are imaging monitoring or stereotactic radiosurgery. The main factors which are considered during the management are the extension of the tumor, the presence or not of facial palsy, the experience of the surgeon, and the patient’s options.

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Segmental neurofibromatosis

Cited by 3 publications

References 5 publications

Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis

Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis

Segmental neurofibromatosis with compression of the spinal cord at the cervical level. Literature review and case report

Extracranial Facial Nerve Schwannoma—Histological Surprise or Therapeutic Planning?

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