Introduction:

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that has variable phenotypic expressivity, with manifestations ranging from cutaneous lesions to functional compromise. It manifests clinically during childhood and adolescence. The NF-1 gene encodes a protein, neurofibromin gene, which acts as a tumor suppressor under normal conditions by regulating another protein that stimulates cell growth and proliferation. In case of alteration, different tumor processes may occur, such as the one seen in a small number of cases.

Case presentation:

20-year-old male patient with NF1, who presented café-au-lait spots and developed a glioblastoma, which happens infrequently.

Discussion:

Immunohistochemistry methods that contribute greatly to prognosis are included to achieve the confirmed diagnosis since the median overall survival of glioblastoma patients is higher in patients with NF1 than in those without said pathological entity.

Conclusion:

The early diagnosis of the lesions favors a timely management of NF1. These patients require a comprehensive and interdisciplinary management to achieve full rehabilitation.

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