title: 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.
authors.affiliation: Departamento de Dermatología, Hospital Universitari Germans Trias i Pujol, Barcelona, España. Electronic address: adriplanapla@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Plana-Pla
authors.affiliation: Departamento de Dermatología, Hospital Universitari Germans Trias i Pujol, Barcelona, España.
authors.forename: I
authors.initials: I
authors.lastname: Bielsa-Marsol
authors.affiliation: Departamento de Dermatología, Hospital Universitari Germans Trias i Pujol, Barcelona, España.
authors.forename: C
authors.initials: C
authors.lastname: Carrato-Moñino
authors.affiliation: Departamento de Dermatología, Hospital Universitari Germans Trias i Pujol, Barcelona, España.
mesh_terms: D019080:Cafe-au-Lait Spots / Q000209:etiology; D002386:Cataract / Q000235:genetics; D002648:Child; D042241:Early Diagnosis; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics; D006983:Hypertrichosis / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D009442:Neurilemmoma / Q000235:genetics / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000473:pathology*; D009464:Neuroma, Acoustic / Q000000981:diagnostic imaging / Q000235:genetics; D011379:Prognosis; D012867:Skin / Q000473:pathology*; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology
keywords: Café-au-lait spots; Hybrid tumor; Manchas café con leche; Neurofibromatosis tipo 2; Neurofibromatosis type 2; Plexiform schwannoma; Schwannoma; Schwannoma plexiforme; Tumor híbrido