Ramos-Espinoza AB, Garza-Tovar TF, Mesa-Garza IG, González-Cabello D, González-Murillo E, Navarrete-Solís J

Language: Spanish
References: 11
Page: 153-156
PDF size: 198.22 Kb.

ABSTRACT

Segmental neurofibromatosis is a rare genodermatosis caused by a post-zygotic mutation on chromosome 17 that leads to somatic mosaicism. It’s manifested by lesions distributed in an area of the body, consisting of coffee spots with milk, neurofibromas or plexiform neurofibromas. The disease includes four clinical subtypes and may be associated with systemic involvement and malignancies. The diagnosis of true segmental neurofibromatosis is performed with the absence of affected relatives, clinical correlation with the histopathological findings of neurofibroma and immunohistochemistry. The treatment of neurofibromas is surgical, clinical follow-up should be performed due to the risk of developing complications. We present a 63-year-old female with true segmental neurofibromatosis.

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