CT Appearance of Generalized von Recklinghausen Neurofibromatosis

Biondetti, Pietro; Vigo, M; Fiore, Davide; Faveri, D. De; Ravasini, R; Benedetti, L

doi:10.1097/00004728-198310000-00021

Cited by 31 publications

(11 citation statements)

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“…NF1 is inherited as an autosomal dominant disorder; however, up to 50% of cases occur sporadically due to spontaneous mutation. Although many affected patients present in childhood with classic clinical findings, up to 10% of patients present later in life with formefruste 8 or atypical manifestations They are most often seen in the head and neck, lower extremity, torso, the mass is placed relatively central to the nerve and is intimately related to the affected nerve. Cysts are rarely seen in neurofibromas and they are well circumscribed lesions showing the peripheral contrast enhancement.…”

Section: Discussionmentioning

confidence: 99%

Malignant Nerve Sheath Tumor with Secondary Intradural Extramedullary Metastases

Samsudeen¹

2016

jmscr

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Section: Discussionmentioning

confidence: 99%

Malignant Nerve Sheath Tumor with Secondary Intradural Extramedullary Metastases

Samsudeen¹

2016

jmscr

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“…Clinical symptoms are usually observed in childhood, though in approximately 10% of cases they occur later in life and are atypical [48, 53]. Neurofibromatosis type I can exhibit different clinical manifestations, which makes a diagnosis more difficult.…”

Section: Neurofibromatosis Type Imentioning

confidence: 99%

Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

Lacerda

Alves

Zanier

et al. 2014

Radiology Research and Practice

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Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions.

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“…Les calcifications sont rares et peuvent prendre un aspect ostéoïde, chondroïde ou amorphe [48,314,474] . Les calcifications sont rares et peuvent prendre un aspect ostéoïde, chondroïde ou amorphe [48,314,474] .…”

Section: Arguments En Faveur D'une Tumeur Des Gaines Des Nerfs Périphunclassified

Tumeurs des tissus mous

Tchernin¹,

Aubert²,

Lesage³

et al. 2013

Imagerie Musculosquelettique : Pathologies Générales

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CT Appearance of Generalized von Recklinghausen Neurofibromatosis

Cited by 31 publications

References 0 publications

Malignant Nerve Sheath Tumor with Secondary Intradural Extramedullary Metastases

Malignant Nerve Sheath Tumor with Secondary Intradural Extramedullary Metastases

Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

Tumeurs des tissus mous

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