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Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1
Author(s) -
VázquezOsorio Igor,
DuatRodríguez Anna,
GarcíaMartínez Francisco Javier,
Torrelo Antonio,
NogueraMorel Lucero,
HernándezMartín Angela
Publication year - 2017
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.13094
Subject(s) - medicine , neurofibromatosis , dermatology , café au lait spot , malignancy , neurofibroma , nevus of ota , pediatrics , nevus , pathology , melanoma , cancer research
Background/Objectives Mosaic neurofibromatosis type 1 ( MNF 1) is a variant of neurofibromatosis type 1 ( NF 1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF 1. Methods We performed a retrospective study of 40 children diagnosed with MNF 1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015. Results All patients had pigmentary changes, alone ( n = 39) or in combination with neurofibromas ( n = 1). Twenty‐four cases fulfilling the definition of MNF 1 had six or more café au lait spots with or without freckling within the affected segment. They all lacked any other National Institutes of Health criteria of NF 1. No patient had juvenile xanthogranuloma ( JXG ) or nevus anemicus ( NA ). Two children with MNF 1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). Conclusions Pigmentary changes are the most frequent presentation of MNF 1 in children. MNF 1 must be considered with segmentary distribution of freckling and café au lait spots. Other frequent cutaneous findings in NF 1, such as JXG or NA , seem to be exceptional in MNF 1. Although the possibility of systemic complications and cancer risk seem to be low, patients must be followed up.