<abstract xmlns="http://www.w3.org/1999/xhtml"><p>von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the <italic>NF1</italic> gene located on chromosome 17 in locus q11.2. The product of the <italic>NF1</italic> gene is neurofibromin and the protein is well known to be a tumor suppressor factor. This counteracts possible overactivity of RAS (protein)/MAPK (mitogen-activated protein kinase) and RAS/PI3K/AKT/mTOR (phoshatydyloinositol-3-kinase/V-akt murine thy-moma viral oncogene homologue/mammalian target of rapamycin) signaling transduction pathways, preventing from uncontrolled cell proliferation and subsequent tumor formation. A loss of proper functioning of this protein leads to a development of vRD; however, a large variability in a phenotype of the disease and the onset of cutaneous findings, not necessarily in childhood, may provide a clinical diagnosis of the disease late in adulthood. We present a 52-year-old male in whom the diagnosis of vRD was proposed in the sixth decade of life, despite of multiple nodular lesions disseminated over the skin of the whole body and different neurological disturbances, not considered for a long time as manifestations of genodermatosis.</p></abstract>

von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well known to be a tumor suppressor factor. This counteracts possible overactivity of RAS (protein)/MAPK (mitogen-activated protein kinase) and RAS/PI3K/AKT/mTOR (phoshatydyloinositol-3-kinase/V-akt murine thy-moma viral oncogene homologue/mammalian target of rapamycin) signaling transduction pathways, preventing from uncontrolled cell proliferation and subsequent tumor formation. A loss of proper functioning of this protein leads to a development of vRD; however, a large variability in a phenotype of the disease and the onset of cutaneous findings, not necessarily in childhood, may provide a clinical diagnosis of the disease late in adulthood. We present a 52-year-old male in whom the diagnosis of vRD was proposed in the sixth decade of life, despite of multiple nodular lesions disseminated over the skin of the whole body and different neurological disturbances, not considered for a long time as manifestations of genodermatosis.

Von recklinghausen disease: one patient – various problems

School of Medicine in Katowice, Medical University of Silesia in Katowice, Department of Dermatology,

Andrzej Mielęcki Silesian Independent Public Clinical Hospital in Katowice, Department of Dermatology,

Balkan Journal of Medical Genetics

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

{"article-title":"Von recklinghausen disease: one patient \u2013 various problems"}

von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most...

Von recklinghausen disease: one patient – various problems

Article Category: Case Report

Publicado en línea: 02 ago 2016

Páginas: 95 - 102

DOI: https://doi.org/10.1515/bjmg-2016-0013

Palabras clave
Neurofibromatosis, Neurofibromin, von Recklinghausen disease (vRD)

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Von recklinghausen disease: one patient – various problems

Article Category: Case Report

Publicado en línea: 02 ago 2016

Páginas: 95 - 102

DOI: https://doi.org/10.1515/bjmg-2016-0013

Palabras claveNeurofibromatosis, Neurofibromin, von Recklinghausen disease (vRD)

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Palabras clave
Neurofibromatosis, Neurofibromin, von Recklinghausen disease (vRD)