Manifestaciones cutáneas de la neurofibromatosis tipo 2: interés diagnóstico y pronóstico / Diagnostic and prognostic relevance of the cutaneous manifestations of neurofibromatosis type 2

La neurofibromatosis tipo 2 es una enfermedad hereditaria, autosómica dominante, con penetrancia completa, que ocasiona la aparición de múltiples tumores en el sistema nervioso central y periférico, afectación ocular y lesiones cutáneas de distinta índole. La clínica de la neurofibromatosis tipo 2 es, en general, poco conocida, tanto por los dermatólogos como por el resto de los especialistas, lo que deriva, en algunos casos, en un retraso en el diagnóstico que favorece un aumento de la morbilidad y la mortalidad. En este artículo se expondrán las manifestaciones clínicas menos conocidas, haciendo especial hincapié en las lesiones dermatológicas propias de la enfermedad, las cuales en caso de presentarse y ser identificadas, pueden facilitar el diagnóstico de la misma (AU)

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 (AU)

Diagnostic and Prognostic Relevance of the Cutaneous Manifestations of Neurofibromatosis Type 2. / Manifestaciones cutáneas de la neurofibromatosis tipo 2: interés diagnóstico y pronóstico.

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.

¿Es el poliomavirus BK la causa de cistopatía hemorrágica en los pacientes sometidos a trasplante de progenitores hematopoyéticos alogénicos? / Is polyomavirus BK the cause of hemorrhagic cystopathy in patients who undergo allogeneic hematopoietic progenitor cell transplantation?

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[Oligodendrogliomas: their morphological characteristics and molecular alterations]. / Oligodendrogliomas: caracteristicas morfologicas y alteraciones moleculares.

INTRODUCTION: Oligodendrogliomas constitute a group of infiltrating gliomas with a good response to radio and chemotherapy, which makes it important to distinguish them from the other gliomas and more especially from astrocytomas. Although oligodendrogliomas generally present typical histological features and are easy to diagnose, they sometimes have a mixed or hybrid morphology that makes their classification difficult and ambiguous. In these cases immunohistochemistry is of little use, since to date no markers have been found that enable a reliable distinction to be made between oligodendrogliomas and astrocytomas. DEVELOPMENT: Here we review the histological criteria of oligodendroglial tumours and how to distinguish them from other morphologically similar brain tumours. We also discuss how alterations to the short arm of chromosome 1 and to the long arm of chromosome 19 (co-deletion of 1p/19q), which can be detected using FISH or PCR, enable us to classify mixed oligoastrocytic tumours and to define subgroups of oligodendrogliomas with different prognoses and responses to treatment. CONCLUSIONS: In daily practice, the status of 1p and 19q should be analysed in all tumours with an oligodendroglial histological phenotype, because this makes it possible to define subgroups each having different prognoses and responses to therapy.