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Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience.
- Source :
-
Journal of cutaneous medicine and surgery [J Cutan Med Surg] 2017 Sep/Oct; Vol. 21 (5), pp. 379-382. Date of Electronic Publication: 2017 Apr 27. - Publication Year :
- 2017
-
Abstract
- Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings.<br />Objectives: Our study's objectives were to describe the clinical characteristics of children with MNF.<br />Methods: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and analysed using a standardised data collection form approved by our hospital Research Ethics Board.<br />Results: We identified 60 patients with MNF; 32 of 60 (53.3%) were female. Mean ± SD age at first assessment was 10.6 ± 4.6 years. The most common initial physical manifestation in 39 of 60 (65.0%) patients was localised pigmentary changes only, followed by plexiform neurofibromas only in 10 of 60 (16.7%) and neurofibromas only in 9 of 60 (15.0%). Unilateral findings were seen in 46 of 60 (76.7%) patients. Most common associations identified included learning disabilities (7/60; 12%) and bony abnormalities (6/60; 10.0%).<br />Conclusions: MNF is an underrecognised condition with potential implications for patients. Children mostly present with pigmentary anomalies only. Most patients do not develop associated findings or complications before adulthood, but long-term follow-up will help determine outcomes and possible associations. Recognition and confirmation of the diagnosis is important to provide follow-up and genetic counselling to patients.
- Subjects :
- Adolescent
Bone and Bones abnormalities
Child
Child, Preschool
Cross-Sectional Studies
Female
Follow-Up Studies
Genes, Neurofibromatosis 1
Genetic Testing
Humans
Learning Disabilities complications
Male
Melanosis etiology
Mosaicism
Mutation
Neurofibromatoses genetics
Young Adult
Cafe-au-Lait Spots etiology
Neurofibroma, Plexiform etiology
Neurofibromatoses complications
Skin Neoplasms etiology
Subjects
Details
- Language :
- English
- ISSN :
- 1615-7109
- Volume :
- 21
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of cutaneous medicine and surgery
- Publication Type :
- Academic Journal
- Accession number :
- 28448720
- Full Text :
- https://doi.org/10.1177/1203475417708163