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
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INTRODUCTION
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, with its presumptive
incidence estimated at one in 3000 to 5000 births.
The disease has an autosomal dominant pattern of
inheritance that involves mutations within the NF1
gene located on chromosome 17 in locus q11.2 [1,2].
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 thymoma viral oncogene homologue/
mammalian target of rapamycin) signaling
transduction pathways, preventing from vuncontrolled
cell proliferation and subsequent tumor formation [3].
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 [4].
Case Presentation. A 52-year-old male patient
was admitted to the Department of Dermatology,
Silesian Medical University in Katowice, Poland, due to multiple nodular lesions disseminated over
the skin of the whole body. Those cutaneous findings
of skin-like to brown color, were palpable soft, non
painful masses with a tendency to be pedunculated
(Figures 1 and 2). Previously, those nodular lesions
started to appear at puberty, initially affecting the face
and then the chest, however, none of these findings
had been investigated at that time. Similar, however
less numerous, nodular lesions could be found on the
skin of arms and the trunk of the patient’s mother,
but medical investigation had been never expanded
and the woman died at the age of 62 years due to a
brain tumor.
At the age of 45, the patient underwent a surgical
excision of a rapidly growing tumorous lesion (1.5
× 1.5 cm in size) from the skin of his right forearm
and another one (5.0 ×4.5 cm in size) over the right
scapula. A histopathology of both lesions provided
a diagnosis of neurofibroma. A swelling of the left
side of the mandible was the third histopathologically
confirmed neurofibroma (3.0 × 4 mm in size), the one
detected at a dental consultation at the Department
of Dermatology (Figure 3).
Retrospectively, in 1984, at the age of 23, the
patient was hospitalized at the Department of Neurology,
Katowice, Poland, due to an epileptic seizure.
Computed tomography (CT) of the head then
revealed a tumor of the pituitary gland, however, the
patient refused any surgical treatment of the finding.
A series of control CTs, repeated for the following 9
years finally revealed a spontaneous regression of the
tumor within the sella turica in 1993. Unfortunately,
CTs taken in recent years (2010-2014) revealed a displacement
of the cerebellar tonsils into the foramen
magnum (Figure 4) and some edema of the optical
chiasma. Ultrasonography of the right eyeball confirmed
a focal distention (9.1 mm width) of the optic
nerve within the orbital part providing a suspicion
of optic glioma with no further enlargement of this
finding at follow-up. Additionally, a consultation of
the ophthalmologist at the Department of Dermatology
revealed a presence of two nodular lesions on
the right iris (presumptively Lisch nodules). Despite
of detected abnormalities, no surgical treatment was
required since the patient was in relatively good
clinical condition (without headaches or strabismus) and surprisingly, his epilepsy was well controlled
by pharmacological agents (Gabapentin 600 mg administered
twice daily and Carbamazepine 400 mg
three times daily).
An evident abnormality in the patient’s posture
was a severe developmental scoliosis and deformity
of the left ankle (Figure 5). An X-ray of the left shin
revealed a significant loss of cortical bone close to
the central part of the left fibula, with an abscence
of its distal part and replaced by a metal implant.
Retrospectively, the patient had undergone a surgical
treatment of bone deformity of the left shin in his
early childhood, however, persistent impairment of
mobility was evident by a severe limping at the walk.
Interestingly, despite characteristic histopathology
of excised cutaneous lesions and concomitant
neurological disturbances, no investigation of genodermatosis
was previously performed. The entire
spectrum of abnormalities provided a clinical diagnosis
of vRD based on criteria of recognition established
at the National Institutes of Health Consensus
Conference in 1988. At the Department of Dermatology,
the patient was referred for further treatment of
the most disfiguring skin findings with cryotherapy.
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