Diagnostic and Prognostic Relevance of the Cutaneous Manifestations of Neurofibromatosis Type 2

Abstract

Neurofibromatosis type 2 is an autosomal dominant hereditary disease with complete penetrance. It gives rise to multiple central and peripheral nervous system tumors, ocular alterations, and various types of skin lesion. In general, neither dermatologists nor other specialists have in-depth knowledge of the clinical manifestations of neurofibromatosis type 2. In some cases, this can lead to delayed diagnosis, which can increase morbidity and mortality. We describe the less well known clinical manifestations of NF2, focusing particularly on skin lesions specific to this disease. Identification of these lesions, when present, can facilitate diagnosis.

Keywords: Café-au-lait spots; Hybrid tumor; Manchas café con leche; Neurofibromatosis tipo 2; Neurofibromatosis type 2; Plexiform schwannoma; Schwannoma; Schwannoma plexiforme; Tumor híbrido.