Segmental neurofibromatosis

Roth, R. R.

doi:10.1001/archderm.123.7.917

Cited by 34 publications

(16 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The strictly defined segmental NF was termed NF5 in Riccardi's clinical classification of the neurofibromatoses into eight groups. 4 Broader definitions were given by Roth 5 and Combemale et al 6 Their classification schemes, however, which include heritable and non-heritable clinically distinguishable subtypes were not in agreement with genetic knowledge. A classification for neurofibromatoses into NF1, NF2, alternate and related forms of either NF1 or NF2 was proposed by Viskochil and Carey, 7 according to the present understanding of the molecular aspects of neurofibromatoses.…”

Section: Introductionmentioning

confidence: 99%

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

et al. 2000

View full text Add to dashboard Cite

Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at the molecular level. Using fluorescence in situ hybridisation (FISH) we identified an NF1 microdeletion in a patient with segmental NF in whom café-au-lait spots and freckles are limited to a single body region. The mutant allele was present in a mosaic pattern in cultured fibroblasts from a café-au-lait spot lesion, but was absent in fibroblasts from normal skin as well as in peripheral blood leukocytes. These findings prove the hypothesis that the molecular basis of segmental cutaneous NF is a mutation in the NF1 gene and that the regional distribution of manifestations reflects different cell clones, commensurate with the concept of somatic mosaicism.

show abstract

Section: Introductionmentioning

confidence: 99%

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

et al. 2000

View full text Add to dashboard Cite

show abstract

“…SNF has been divided into four subtypes: true segmental, localized with deep involvement, hereditary, and bilateral [5]. SNF can present with only pigmentary changes, only neurofibromas, isolated plexiform neurofibromas, or both pigmentary changes and neurofibromas, as in our patient [6,7].…”

Section: Discussionmentioning

confidence: 95%

Segmental neurofibromatosis presenting with congenital excessive skin folds

Helfand

Nouriel

Zisquit

et al. 2015

Dermatol Pract Concept

View full text Add to dashboard Cite

Segmental neurofibromatosis (SNF) is a rare type of neurofibromatosis (NF-1) resulting from post-zygotic somatic mutations in the neurofibromin gene that leads to mosaicism. Reported manifestations of SNF include neurofibromas, freckling, or café-au-lait spots limited to a single body region or limb. We present a 5-month-old male referred to our clinic for evaluation of congenital excessive skin folds on the back. A mildly erythematous, poorly demarcated soft plaque was noted, consisting of excessive skin folds. A cluster of light brown hyperpigmented macules was seen overlying the plaque. A punch biopsy of the plaque confirmed a diagnosis of neurofibroma. Further investigation ruled out other manifestations of NF-1. The early onset of our patient’s neurofibroma and its gross appearance with redundant skin folds are all unusual features. To our knowledge, congenital excessive skin folds found in a single tumor have not been previously described in the literature as a manifestation of SNF. Clinicians should be educated about the possibility of congenital localized skin folds in association with SNF in order to identify the disease in infancy and monitor any changes in neurofibroma pathology.

show abstract

“…Type V was reserved for SN. In 1987, Roth et al [8] subdivided NF into four variants: true segmental, localized with deep involvement, hereditary and bilateral. Our patient presents true segmental SN.…”

Section: Discussionmentioning

confidence: 99%

Segmental Neurofibromatosis

장대성¹,

김유진²,

김명남³

et al. 2000

Journal of Neurosurgery

View full text Add to dashboard Cite

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.

show abstract

Segmental neurofibromatosis

Cited by 34 publications

References 0 publications

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

Segmental neurofibromatosis presenting with congenital excessive skin folds

Segmental Neurofibromatosis

Contact Info

Product

Resources

About