Segmental neurofibromatosis in childhood

Robert H Listernick*, Anthony J Mancini, Joel Charrow

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

67 Scopus citations

Abstract

Segmental neurofibromatosis refers to individuals who have manifestations of neurofibromatosis type 1 (NF-1) limited to one area of the body. It results from a post-conceptional mutation in the NF-1 gene leading to somatic mosaicism. Although it is generally considered a rare condition, this report of 39 children with segmental NF-1 demonstrates that it is commonly seen in a pediatric NF-1 referral center. The mean age at diagnosis was 7.8 years (range: 2-25 years). Twenty-nine patients had only pigmentary manifestations of segmental NF-1, including seven who had only café-au-lait macules and 22 who had café-au-lait macules and freckling. Two patients had isolated plexiform neurofibromas; a third patient had a plexiform neurofibroma of the eyelid in addition to ipsilateral dysplasia of the sphenoid wing and Lisch nodules. A 12-year-old girl had an isolated tibial pseudarthrosis. An 8-year-old boy had an isolated optic pathway tumor, which behaved both biologically and radiographically as an NF1-associated tumor. While most children with segmental NF-1 have only localized pigmentary changes, some children will have isolated plexiform neurofibromas, pseudarthroses, or optic pathway tumors. Accurate diagnosis of segmental NF-1 is crucial for both management and genetic counseling.

Original languageEnglish (US)
Pages (from-to)132-135
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume121 A
Issue number2
StatePublished - Aug 30 2003

Keywords

  • Café-au-lait macules
  • Neurofibromatosis type 1
  • Segmental neurofibromatosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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