Segmental neurofibromatosis

Kyprianou, I G; Mantry, S; Reuser, T

doi:10.1038/sj.eye.6701363

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…Three hundred twenty individuals were identified from the case reports and two large case series, and we present them separately. Table shows the 157 well‐detailed individual cases from the 109 articles , Table shows the 124 individuals that Ruggieri and Huson reported, and Table shows the 39 that Listernick et al described.…”

Section: Resultsmentioning

confidence: 99%

Mosaic Neurofibromatosis Type 1: A Systematic Review

García-Romero

Parkin

Lara‐Corrales

2015

Pediatric Dermatology

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Confusion is widespread regarding segmental or mosaic neurofibromatosis type 1 (MNF1). 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 MNF1 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 MNF1 restricted to one segment; the remainder had generalized MNF1. Of 157 case reports, 29% had complications associated with NF1. In one large case series, 6.5% had offspring with complete NF1. The terms "segmental" and "type V" neurofibromatosis should be abandoned, and the correct term, mosaic NF1 (MNF1), should be used. All individuals with suspected MNF1 should have a complete physical examination, genetic testing of blood and skin, counseling, and health surveillance.

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Section: Resultsmentioning

confidence: 99%