VON RECKLINGHAUSEN DISEASE:
ONE PATIENT – VARIOUS PROBLEMS Bergler-Czop B, Miziołek B, Brzezińska-Wcisło L *Corresponding Author: Associate Professor Beata Bergler-Czop, Department of Dermatology, Silesian
Medical University Katowice, Francuska Street 20/24, 40-027, Katowice, Poland. Tel./Fax: +48-32-284-
0877. E-mail: bettina2@tlen.pl page: 95 download article in pdf format
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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.
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