Absence of the Greater Sphenoid Wing in Neurofibromatosis 1

Pinna, Antonio

doi:10.1001/archopht.123.10.1454

Cited by 13 publications

(3 citation statements)

References 2 publications

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“…Thus, we have termed this lesion ''divided café au lait of the mouth.'' Development of the CALM at this time would logically correspond with the fact that the sphenoid wing, which is dysplastic in neurofibromatosis, develops around 5 weeks GA. 7 However, the genetic defect in neurofibromatosis may be progressive as a result of differential expression of the gene in different tissues with age and the occurrence of second hits, ie, naturally occurring mutations of the normal copy of the neurofibromin gene. …”

Section: Discussionmentioning

confidence: 99%

Divided café-au-lait macule of the mouth

Sergay

Silverberg

2007

Journal of the American Academy of Dermatology

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Section: Discussionmentioning

confidence: 99%

Divided café-au-lait macule of the mouth

Sergay

Silverberg

2007

Journal of the American Academy of Dermatology

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“…Sphenoid wing dysplasia, seen in 3-7% of patients with NF1, is a result of enlargement of the superior orbital fissure, usually associated with a plexiform neurofibroma in the distribution of the trigeminal nerve [27,28]. This may cause herniation of a meningoencephalocele from the temporal lobe, resulting in pulsating exophthalmos and proptosis [29]. Repair of the defect may be performed through a transcranial approach with placement of a barrier in the area of the defect [30 & ].…”

Section: Key Pointsmentioning

confidence: 99%

Proliferation and arrest

Allen¹

2015

Current Opinion in Ophthalmology

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“…Other ophthalmological manifestations of NF1 include Lisch nodules of the iris, neurofibromas of the eyelids and orbit, sphenoid dysplasia, retinal tumors, and multifocal choroidal nevi. 23,40,73 Table 1 provides a summary of the NIH diagnostic criteria for NF1.…”

mentioning

confidence: 99%

Syndromic and sporadic pediatric optic pathway gliomas: review of clinical and histopathological differences and treatment implications

Shamji

Benoit

2007

Neurosurgical FOCUS

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Optic pathway gliomas (OPGs) are the most common primary neoplasm of the optic pathway. These lesions usually present in childhood and can arise anywhere along the optic pathway; they occur more frequently in women; and they rarely undergo late progression. Management strategies after the initial diagnosis are controversial, compounded by the different behaviors exhibited by sporadic and syndromic tumors. Neurofibromatosis Type 1 (NF1), with aberrant oncogenic signaling and consequent predisposition to intracranial tumors, is the most common associated syndrome, with nearly 20% of NF1 patients developing OPGs. A comorbid NF1 diagnosis has implications for tumor location with greater predilection for optic nerve involvement, whereas chiasmal and postchiasmal lesions are more frequently seen in sporadic cases. Syndromic OPGs often exhibit more indolent behavior and lower rates of clinical progression, and the majority of these are diagnosed by routine neuroophthalmological screening. When treatment is indicated, however, the molecular abnormalities that constitute this syndrome can limit the available chemotherapy and radiotherapy options because clinicians fear secondary malignancy and cerebrovascular complications. Furthermore, radiotherapy early in life can impair an individual's intellectual development, endocrine function, and physical growth, thereby limiting the role of this modality in the treatment of this childhood lesion. Differential gene expression and histogenesis among sporadic and syndromic OPGs may account for the different tumor behaviors, but studies correlating specific genetic and proteomic changes with patient outcome are pending. Loss of heterozygosity at 10 and 17q are more common among patients with NF1, and Ki67 labeling intensity of 2-3% and low p53 labeling intensity seem prognostic of aggressive tumor behavior. Recent advances in the development of a preclinical mouse model of NF1-associated OPG will permit investigation into improved detection strategies and chemotherapeutic and radiotherapy treatment protocols.

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Absence of the Greater Sphenoid Wing in Neurofibromatosis 1

Cited by 13 publications

References 2 publications

Divided café-au-lait macule of the mouth

Divided café-au-lait macule of the mouth

Proliferation and arrest

Syndromic and sporadic pediatric optic pathway gliomas: review of clinical and histopathological differences and treatment implications

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