Salazar-López MD, López REE, Gómez CNE, Muñoz CA, Arenas R

Language: Spanish
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Page: 445-447
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ABSTRACT

Segmental neurofibromatosis (SNF) is a rare neurocutaneous disorder secondary from a postzygotic NF1 (neurofibromatosis type 1) gen mutation, it is characterized by “café-au-lait” spots and segmental and unilateral neurofibromas; unlike neurofibromatosis type 1, SNF is not associated with extracutaneous salterations or with the presence of family history with a similar condition.
We report a 11-year-old female, presenting a localized, unilateral dermatosis on the right side of the body that respects the midline, these lesions predominate in the right axillary region and chest, characterized by “café-au-lait” spots and multiple axillary freckles.
Segmental neurofibromatosis is considered the result of somatic mosaicism, reflected in the wide phenotypic heterogeneity of this disorder. Those patients under diagnose of snf should receive a comprehensive evaluation that includes a complete physical and ophthalmological examination, as well as genetic.