Segmental neurofibromatosis: Case reports and review

Hager, C; Cohen, Philip R.; Tschen, Jaime A.

doi:10.1016/s0190-9622(97)80013-8

Cited by 85 publications

(61 citation statements)

References 73 publications

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“…In contrast to NF I and NF II, systemic involvement in SN seems to be uncommon, except patients with plexiform neurofibromatomas [1,2,13,14].…”

Section: Discussionmentioning

confidence: 89%

“…The disease occurs twice more often in females. There is a bimodal peak of onset at 10 to 30 years and 50 to 70 years [1][2][3].…”

Section: Discussionmentioning

confidence: 99%

“…In most cases, lesions follow the lines of Blaschko. Lesions are usually unilateral (approximately 6% of cases are bilateral) and occupy single dermatome [1,2,11,12].…”

Section: Discussionmentioning

confidence: 99%

“…In the worldwide medical literature, approximately 100 cases of SN have been described so far. We present the first Polish patient with SN [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

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Segmental Neurofibromatosis

장대성¹,

김유진²,

김명남³

et al. 2000

Journal of Neurosurgery

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A b s t r a c tSegmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by neurofibromas, café-au-lait spots and neurofibromas limited to a circumscribed body region. The disease may be associated with systemic involvement and malignancies. The disorder has not been reported yet in the Polish medical literature. A 63-year-old Caucasian woman presented with a 20-year history of multiple, flesh colored, dome-shaped, soft to firm nodules situated in the right lumbar region. A histopathologic evaluation of three excised tumors revealed neurofibromas. No neurological and ophthalmologic symptoms of neurofibromatosis were diagnosed.

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“…In contrast to NF I and NF II, systemic involvement in SN seems to be uncommon, except patients with plexiform neurofibromatomas [1,2,13,14].…”

Section: Discussionmentioning

confidence: 89%

“…The disease occurs twice more often in females. There is a bimodal peak of onset at 10 to 30 years and 50 to 70 years [1][2][3].…”

Section: Discussionmentioning

confidence: 99%

“…In most cases, lesions follow the lines of Blaschko. Lesions are usually unilateral (approximately 6% of cases are bilateral) and occupy single dermatome [1,2,11,12].…”

Section: Discussionmentioning

confidence: 99%

“…In the worldwide medical literature, approximately 100 cases of SN have been described so far. We present the first Polish patient with SN [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

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Segmental Neurofibromatosis

장대성¹,

김유진²,

김명남³

et al. 2000

Journal of Neurosurgery

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“…They tend to arise in dermatomal distribution, most commonly cervical, followed by thoracic, lumbar, and sacral region. Pigmentary findings are common in children whereas, in adults neurofibromas are more common (6). In the majority of the cases that are characterized by pigmentary abnormalities, lesions tend to follow the lines of Blaschko (7).…”

Section: Discussionmentioning

confidence: 99%

Segmental Neurofibromatosis: Atypical Localisation

Demir¹,

Can²,

Oman³

et al. 2015

tdd

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Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders

Carey

Viskochil²

1999

Am. J. Med. Genet.

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Neurofibromatosis type 1 (NF1) is a pleiotropic autosomal dominant disorder with marked variability of clinical expression. As in other heritable disorders, the mapping and cloning of the gene responsible for NF1 have increased our understanding of the pathogenesis of the condition. In particular, the phenotypic variability and variable expressivity can be studied using molecular techniques. In this article we summarize the current knowledge of genotype/phenotype correlation in NF1 and examine the potential molecular basis for variable expressivity. Am. J. Med. Genet. (Semin. Med. Genet.) 89:7-13, 1999.

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Segmental neurofibromatosis: Case reports and review

Cited by 85 publications

References 73 publications

Segmental Neurofibromatosis

Segmental Neurofibromatosis

Segmental Neurofibromatosis: Atypical Localisation

Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders

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