Melanocytic nevi are associated with neurofibromas in neurofibromatosis, type I, but not sporadic neurofibromas. A study of 226 cases*

Ball, Nigel J.; Kho, Grace T.

doi:10.1111/j.0303-6987.2005.00376.x

Cited by 31 publications

(21 citation statements)

References 61 publications

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“…Mutations therefor exert a pleiotropic effect on derivatives of the neural crest including embryonic misplacement and deregulated proliferation of Schwann cells, perineural cells, and melanocytes [2]. The condition is autosomal dominant with variable penetrance and exhibits a high degree of de novo mutations [3].…”

Section: Introductionmentioning

confidence: 99%

The riddle of multinucleated “floret-like” giant cells and their detection in an extensive gluteal neurofibroma: a case report

et al. 2013

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IntroductionThe neurofibromatoses are inherited tumor predisposition syndromes involving two major clinical phenotypes: neurofibromatosis type 1 (von Recklinghausen's disease) is linked to chromosome 17q, and tends to occur seven times more frequently than neurofibromatosis type 2. Neurofibromatosis type 1 entails a distinctive cutaneous manifestation prevailed upon by benign neurofibromas, which may vary in size, number and distribution. On the histological level, neurofibromas are composed of an admixture of neurilemmal cells, including Schwann cells, fibroblasts, and – to a lesser extent – perineurial cells.Case presentationThe case of a 39-year-old Caucasian man with a voluminous recurrent neurofibroma of 27×15cm extending from the left gluteal region to thoraco-lumbar levels Th6 through L4 is reported. Within the soft tissue tumor a pseudocyst of 7.3×9.3cm was found preoperatively.ConclusionHistopathological study of the excised mass was conspicuous for revealing a large number of multinucleated floret-like giant cells within an otherwise classical soft tissue neurofibroma.Previous reports on neurofibromas with multinucleated floret-like giant cells are distinctly scant. Available evidence from the literature does not suggest any consistent correlation of multinucleated floret-like giant cells in neurofibromas with gender, age, traumatic antecedents, size of the lesion, recurrence, or malignant transformation. Furthermore, the presence of such cells may not be specific for neurofibromatosis type 1, as they occasionally are encountered in some unrelated mesenchymal neoplasms as well.

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Section: Introductionmentioning

confidence: 99%

The riddle of multinucleated “floret-like” giant cells and their detection in an extensive gluteal neurofibroma: a case report

et al. 2013

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“…28,29 Additionally, dysplastic nevi associated with solitary neurofibromas have also been reported, 30 and acquired and congenital nevi associated with neurofibroma are seen especially within the setting of neurofibromatosis type 1. 31,32 The increased cellularity of lesional cells with enlarged hyperchromatic nuclei within the neuroid component of our reported case resembled those of an atypical/dysplastic neurofibroma; however, the focally high mitotic rate was not compatible with atypical neurofibroma. In one series of atypical neurofibroma, many lesions displayed at least focal EMA positivity; most also showed conspicuous axons and/or small nerve twigs that were then highlighted by the neurofilament stain.…”

Section: Discussionmentioning

confidence: 55%

Malignant Melanoma With Neural Differentiation

Dry

Binder

et al. 2014

The American Journal of Dermatopathology

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The term neurotropic melanoma has been used to refer to malignant melanoma with associated infiltration of nerve or “neural differentiation”—that is, melanoma cells exhibiting cytological characteristics of nerve cells. Historically, neurotropic melanoma has generally been discussed within the context of desmoplastic melanoma. We report an exceptional case of melanoma notable for a very well-differentiated neural component that was contiguous with obvious overlying melanoma. After careful consideration of all pertinent histological features, the overall diagnostic impression was that of melanoma with associated “malignant neurotization.” We have not encountered a previously reported case with such a well-differentiated neural component. The following article details our exceptional case of melanoma with “malignant neurotization” and presents a discussion of the differential diagnosis and brief review of the pertinent literature.

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“…[4] GCMN can occur in 5% of von Recklinghausen's neurofibromatosis Type I. [5] In our child, neurofibromatosis was ruled out as diagnostic criteria were not met. Based on classical skin lesion with developmental delay and convulsions, we made diagnosis of NCM.…”

Section: Discussionmentioning

confidence: 99%

Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas

et al. 2016

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Neurocutaneous melanosis is congenital melanocytic nevus with neurological manifestations. We report a 4-year-old female child presenting with hyperpigmented and nodular skin lesion associated with developmental delay and convulsions. The child had multiple brownish-black nevi on the face and chest and giant melanocytic nevi on thoraco-abdomen, back, and gluteal region. Computed tomography scan of the brain showed calcification in the pons, right cerebellar hemisphere, and left medial temporal lobe. Skin biopsy done from nodular hyperpigmented site was suggestive of melanocytic nevi. Electroencephalogram showed multifocal epileptiform discharges.

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Melanocytic nevi are associated with neurofibromas in neurofibromatosis, type I, but not sporadic neurofibromas. A study of 226 cases*

Cited by 31 publications

References 61 publications

The riddle of multinucleated “floret-like” giant cells and their detection in an extensive gluteal neurofibroma: a case report

The riddle of multinucleated “floret-like” giant cells and their detection in an extensive gluteal neurofibroma: a case report

Malignant Melanoma With Neural Differentiation

Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas

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