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Mosaic Neurofibromatosis Type 1: A Systematic Review
Author(s) -
GarcíaRomero Maria Teresa,
Parkin Patricia,
LaraCorrales Irene
Publication year - 2015
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12673
Subject(s) - medicine , neurofibromatosis , confusion , mosaic , family history , physical examination , medline , pediatrics , dermatology , surgery , pathology , psychology , archaeology , political science , psychoanalysis , law , history
Confusion is widespread regarding segmental or mosaic neurofibromatosis type 1 ( MNF 1). Physicians should use the same terms and be aware of its comorbidities and risks. The objective of the current study was to identify and synthesize data for cases of MNF 1 published from 1977 to 2012 to better understand its significance and associations. After a literature search in PubMed, we reviewed all available relevant articles and abstracted and synthetized the relevant clinical data about manifestations, associated findings, family history and genetic testing. We identified 111 articles reporting 320 individuals. Most had pigmentary changes or neurofibromas only. Individuals with pigmentary changes alone were identified at a younger age. Seventy‐six percent had localized MNF 1 restricted to one segment; the remainder had generalized MNF 1. Of 157 case reports, 29% had complications associated with NF 1. In one large case series, 6.5% had offspring with complete NF 1. The terms “segmental” and “type V” neurofibromatosis should be abandoned, and the correct term, mosaic NF 1 ( MNF 1), should be used. All individuals with suspected MNF 1 should have a complete physical examination, genetic testing of blood and skin, counseling, and health surveillance.