title: Von recklinghausen disease: one patient - various problems.
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 theNF1gene located on chromosome 17 in locus q11.2. The product of theNF1gene 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.
authors: School of Medicine in Katowice, Medical University of Silesia in Katowice, Department of Dermatology, Poland.
authors: B
authors: B
authors: Bergler-Czop
authors: Andrzej Mielęcki Silesian Independent Public Clinical Hospital in Katowice, Department of Dermatology, Poland.
authors: B
authors: B
authors: Miziołek
authors: School of Medicine in Katowice, Medical University of Silesia in Katowice, Department of Dermatology, Poland.
authors: L
authors: L
authors: Brzezińska-Wcisło
keywords: Neurofibromatosis; Neurofibromin; von Recklinghausen disease (vRD)