Multiple Cutaneous Plexiform Schwannomas as Initial Presentation of Neurofibromatosis 2 in a 9‐Year‐Old

Nguyen, V B A Tien; Matthews, Mark R.; Barrera, Francisco Barcia; Browning, John

doi:10.1111/j.1525-1470.2011.01532.x

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…It is a rare neoplasm of the neural sheath with a multinodular plexiform growth pattern. It may occur as an isolated lesion but there is a growing number of papers, including our study, reporting its coexistence with NF2 [38][39][40][41][42][43]. Ko et al [40] underline that although plexiform schwannoma is not a pathognomonic tumor for NF2 its presence in a patient may reflect underlying NF2.…”

Section: Pediatric Sporadic Vs Nf2-associated Meningiomasmentioning

confidence: 73%

Multiple faces of children and juvenile meningiomas: A report of single-center experience and review of literature

Stanuszek

Piątek

Kwiatkowski

et al. 2014

Clinical Neurology and Neurosurgery

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Section: Pediatric Sporadic Vs Nf2-associated Meningiomasmentioning

confidence: 73%

Multiple faces of children and juvenile meningiomas: A report of single-center experience and review of literature

Stanuszek

Piątek

Kwiatkowski

et al. 2014

Clinical Neurology and Neurosurgery

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“…Skin plaques have been described to correspond to plexiform schwannomas and are present in approximately 40% to 78% of children with NF2 . Although cutaneous signs are not conspicuous in NF2, these lesions have been suggested to be pathognomonic of NF2 . In the absence of any other evident NF2 clinical symptom, the medical record of the boy was reviewed, revealing a Bell-like palsy 2 years before that did not fully resolve, consistent with the NF2 disease.…”

Section: Resultsmentioning

confidence: 99%

“…1,4 Although cutaneous signs are not conspicuous in NF2, these lesions have been suggested to be pathognomonic of NF2. 4,7,[12][13][14] In the absence of any other evi-dent NF2 clinical symptom, the medical record of the boy was reviewed, revealing a Bell-like palsy 2 years before that did not fully resolve, consistent with the NF2 disease. After written informed consent was obtained, the complete skin plaque was removed for both further pathologic examination and genetic testing.…”

Section: Report Of a Casementioning

confidence: 99%

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

et al. 2018

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IMPORTANCENeurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing.OBJECTIVE To determine the clinical utility of skin plaque identification and characterization in children for reaching an early diagnosis of patients with NF2 and to evaluate their molecular pathogenesis and their use in the genetic diagnostics of NF2.DESIGN, SETTING, AND PARTICIPANTS Diagnostic test study by the histological and genetic characterization of skin plaques from patients with NF2. Patients were 7 individuals with NF2 or clinical suspicion of NF2 treated at the Spanish Reference Center on Phakomatoses. MAIN OUTCOMES AND MEASURESHistological evaluation of all skin plaques was performed. Fresh skin plaques were cultured to obtain Schwann cells and the NF2 gene was genetically analyzed. For all 7 patients, NF2 clinical history was reviewed.RESULTS In all 7 patients (4 male and 3 female), all skin plaques analyzed were histologically characterized as plexiform schwannomas. Genetic analysis of primary Schwann cell cultures derived from them allowed the identification of a constitutional and a somatic NF2 mutation. Genetic testing allowed the early diagnosis of NF2 in a child only exhibiting the presence of skin plaques. Most of the patients with NF2 analyzed had an early presentation of skin plaques and a severe NF2 phenotype.CONCLUSIONS AND RELEVANCE This work emphasizes the clinical utility of a careful dermatological inspection and the correct identification of skin plaques in children for an early diagnosis of NF2. We show for the first time that Schwann cells derived from skin plaque plexiform schwannomas bear the double inactivation of the NF2 gene and thus constitute an excellent source of tissue for genetic testing, especially in the context of mosaicism.

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“…We believe that a greater understanding of the cutaneous manifestations of NF2 might facilitate early diagnosis and provide useful prognostic information, as on reviewing the literature we observed that skin lesions are a common presenting symptom in children with NF2 [11][12][13] and that all cases of cutaneous plexiform schwannomas described to date have occurred in young patients (4-28 years) or patients with a severe phenotype. [14][15][16][17][18][19][20][21] Moreover, in 2018, our group described a series of 7 patients with cutaneous plexiform schwannomas who all later developed a severe NF2 phenotype. 22 The aim of this study was to describe the clinical and histologic characteristics of cutaneous lesions in a cohort of patients with NF2 and to explore associations with phenotype and genotype based on the FGSS.…”

Section: Introductionmentioning

confidence: 99%

Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas

Plana‐Pla

García

Munera‐Campos

et al. 2022

Acad Dermatol Venereol

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Background Neurofibromatosis type 2 (NF2) is a genetic disease characterized by the appearance of multiple tumours in the nervous system. Cutaneous lesions are common and may provide useful diagnostic and prognostic information, but they have not been widely studied.Objectives To characterize cutaneous lesions in a Spanish cohort of patients with NF2 and investigate associations with clinical and genetic severity.Methods We studied the clinical and histologic characteristics of cutaneous lesions in 49 patients with NF2 and analysed correlations with phenotype-and genotype-based severity scores. We collected information on the presence/ absence of cutaneous lesions, location, age at onset, type of lesion, and histologic features. We also studied level of systemic involvement and genetic mutations involved. Results Forty-nine patients (31 women [63.3%] and 18 men [36.7%]) were analysed, and 33 (67.3%) had cutaneous lesions presumed to be schwannomas. According to their clinical form, they were distributed as follows: 24 patients (48%) had deep tumours, 21 (42%) had plaque-like lesions, and 3 (6%) had superficial tumours. Histologic examination from 27 lesions analysed out 23 patients showed classic schwannoma or hybrid schwannoma-neurofibroma features in the 8 deep tumours biopsied and plexiform schwannoma features in the 17 plaque-like lesions and the 2 superficial tumours analysed. Early onset (first 2 decades of life) was reported by all patients with plaques and superficial tumours.In our cohort, 100% of the patients with plaque-like lesions and superficial tumours with microscopic features of plexiform schwannoma were in the 2 groups with the most severe clinical phenotypes, and 82.6% of them were in the 3 most severe genotype-based classes.Conclusions and Relevance Cutaneous lesions, specially plexiform schwannomas, are common in NF2, and they usually appear at an early age providing useful diagnostic and prognostic information. These tumours are part of the spectrum of cutaneous manifestations in this disease. Although its diagnostic and prognostic value has been pointed out, there are few studies focussed on their analysis.

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Multiple Cutaneous Plexiform Schwannomas as Initial Presentation of Neurofibromatosis 2 in a 9‐Year‐Old

Cited by 6 publications

References 9 publications

Multiple faces of children and juvenile meningiomas: A report of single-center experience and review of literature

Multiple faces of children and juvenile meningiomas: A report of single-center experience and review of literature

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas

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