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ISSN 0210-5187 (Electronic)

2019, Number 1

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Med Cutan Iber Lat Am 2019; 47 (1)

Segmental neurofibromatosis

Rossello VE, López GVR, Blanzari MJ, Andres G, del Valle PMB

Language: Spanish
References: 10
Page: 65-67
PDF size: 279.67 Kb.


ABSTRACT

Neurofibromatosis type 1 (NF-1) is an autosomal inherited neurocutaneous disease with an incidence rate of 3,000-5,000 live births. Segmental neurofibromatosis (NFS) is a form of NF-1. NFS is caused by postzygotic NF-1 gene mutations, where patients’ typical characteristics are limited to one or more body segments, without systemic implications. We present the case of a patient with NFS and neurofibromas located in the lumbosacral region as a single manifestation of the disease.


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