Case Report:
Neurofibromatosis
Involving the Fibula in
an Adult Patient
By Julieanne P. Sees, DO and Joseph N. Daniel, DO
C
linical manifestations of neurofibromatosis type-1
(NF-1), also known as von Recklinghausen dis-
ease, are commonly known to present as a broad
spectrum of abnormalities of the skin, soft tis-
sues, nervous tissue, and bones. A conclusive diagno-
sis of NF-1 is made when two of seven criteria have
been established as defined by the National Institutes
of Health Consensus Development Conference (Table
1). The literature documents most orthopaedic charac-
teristics encompassing spinal deformation, congenital
tibial dysplasia, and features of excessive osseous and
soft tissue growth as recognized in children. The pur-
pose of this paper is to report fibular involvement in
an adult patient presenting with ankle pain.
Neurofibromatosis type 1 exhibits musculoskeletal
involvement most commonly as spinal deformity, con-
genital tibial dysplasia, including bowing and
pseudoarthrosis, and bone and soft tissue overgrowth.
For children, the essential objective is early recogni-
tion. For adults, notably from 36 to 50 years, the litera-
ture acknowledges 75 percent of clinical concern is
more often related to malignancy.4 In our case report,
we recount a woman with neurofibromatosis type 1
presenting with debilitating ankle pain secondary to
isolated fibular involvement, which to our knowledge
has not been previously recorded in the literature.
40 | Practical Neurology | January/February 2010
Case
A 42-year-old female presented with a complaint of
right ankle pain exacerbated with prolonged standing
and ambulation, admitting to minimal relief with rest.
Her only known past medical history is significant for
type 1 neurofibromatosis and a surgical history signifi-
cant for resection of a neurofibromal soft tissue mass
of her left leg. On physical examination, the right
lower extremity revealed a normal neurologic and vas-
cular examination with intact motor function from
level L2 to S1. She was tender to palpation about the
anteroromedial and anterolateral aspects of the ankle
and within the sinus tarsi region. The ankle was in
equinus, with Achilles tendon tightness, and had limi-
tation in ankle range of motion of 5 degrees of dorsi-
flexion and 5 degrees of plantarflexion. There was an
increased fixed valgus of the subtalar joint. The
patient was unable to perform an independent heel
rise. The back, abdomen and extremities revealed
multiple flat, smooth bordered, brown skin lesions,
and there was evidence of axillary freckling.
Radiographs of the right lower extremity revealed
evidence of significant cortical thinning to that of a
twisted ribbon or “penciling” and pseudoarthrosis of
the distal fibula with severe valgus malalignment of
the tibiotalar articulation. There was no evidence of

Fig. 1 Fig. 2
Fig. 1. Pseudoarthrosis of distal fibula resembling a twisted ribbon. Figs. 2 and 3. AP and lateral views of severe tibiotalar malalignment and
hindfoot valgus deformity. Figs. 4 and 5. AP and lateral views four months status post ankle and subtalar arthrodesis.
tibial bowing (Figures 1-3). Magnetic resonance
imaging of the right ankle demonstrated no evidence
of neurofibroma or mass within the soft tissues
about the ankle.
Consideration for nonoperative treatment includ-
ing bracing was presented and may have been a
more viable option with earlier recognition of the
condition. Surgical treatment was explained with
design of a calcaneal osteotomy, ankle and subtalar
arthrodesis and Achilles tendon lengthening. The
patient chose to proceed with the operative interven-
tion, managed initially postoperatively with non-
weightbearing of the right lower extremity for six
weeks. Images revealed evidence of healing ankle
and subtalar arthrodesis (Figures 4-5). She was con-
verted subsequently to a short leg walking cast for
an additional six weeks.
Discussion
The first description of neurofibromatosis is credited
to Tilesius von Tilenau in 1793. In 1882, the
German pathologist Dr. Friedrich Daniel von
Recklinghausen became the first to correlate the ori-
gin of the condition with tumorous cells arising from
the sheaths of nerves.
Neurofibromatosis is the most common single gene
disorder found in humans. It has an autosomal domi-
nant trait with variable penetrance and thus there are
multiple forms of the disorder with a numbered classi-
fication scheme developed by the National Institutes
of Health. Neurofibromatosis 1 (NF-1), previously
known as von Recklinghausen disease, is the most
common form, affecting one in 3,500 individuals. The
Case Report: Neurofibromatosis
Fig. 3 Fig. 4 Fig. 5
gene mutation is located on the long arm of chromo-
some 17q11.2, affecting neurofibromin—a regulatory
protein of cellular growth.1,2,5
Conclusive diagnosis is confirmed upon the estab-
lished presence of two of seven criteria as denoted by
the National Institutes of Health Consensus
Development Conference (Table 1).2
There is a vast range of involvement particularly
observed at the largest children’s hospital database
(Cincinnati Children’s Hospital Neurofibromatosis
Center), with pediatric recognition as plexiform neu-
rofibromas, spinal deformity, limb-length inequality,
congenital tibial dysplasia, pectus deformity, and
hemihypertrophy (Table 2).4
Neurofibromatosis 2 (NF-2), previously known as
bilateral acoustic neurofibromatosis or central neurofi-
bromatosis, occurs in about one in 50,000 persons
with its gene defect found on the long arm of chromo-
some 22.3 The characteristic finding is acoustic nerve
tumors, but interspinal and intercranial pathology is
common, as well. Neurofibromatosis 3, known as seg-
mental neurofibromatosis, is thought to be a somatic
mosaic of NF-1, linking components of NF-1 with
additional involvement of a single body segment.
Recently there has been description of a fourth type,
schwannomatosis, believed to be a mosaic form of NF-
2 involving multiple deep painful schwannomas.4
Although manifestations of NF-1 vary from one
individual to another, the genetic penetrance of the
NF-1 gene is close to 100 percent.5 The clinical pic-
ture besides apparent skin changes includes skeletal
features of scoliosis dysplasia, penciling or twisted
ribbon appearance of ribs, scalloping of vertebral
January/February 2010 | Practical Neurology | 41

Table 1 Diagnosis of Neurofibromatosis Type 1 by NIH
Consensus Development Conference Criteria
• Café-au-lait spots, more than 6, at least 15mm in greatest diame-
ter in adults and 5mm in children
• Neurofibroma, 2 or more, or one plexiform neurofibroma
• Axillae or inguinal freckling
• Optic glioma
• Lisch nodules (iris hamartomas), 2 or more
• Distinctive osseous lesion
• First-degree relative with NF-1
bodies, hypertrophy of part or all of a limb, bowing
of a long bone, cortical bone cysts, and
pseudoarthrosis.
Current literature accounts one case of sponta-
neous pseudoarthrosis of the tibia of an adult,6 how-
ever in a thorough search of our literature there is
no mention of isolated fibular deformity in child or
adult. Discussion of fibular involvement is reported
solely in relation to congenital tibial dysplasia in
children classifying the diverse forms by radiograph-
ic or pathologic criteria for prognostic value and ade-
quate treatment.7-15 Isolated description of
pseudoarthrosis of the fibula to our knowledge
remains undocumented. Such incidence and stan-
dard of treatment, moreover, are also unknown,
which designates our case unique in diagnosis and
distinguishing in treatment.
Conclusion
The patient recorded here had distinctive deforma-
tion of her right ankle for most of her life. Upon
evaluation by the orthopaedist, exclusive fibular
involvement was found to have progressed to war-
rant surgical correction for functional ambulation
and definitive pain relief. This case report demon-
strates increased understanding and awareness of
the clinical spectrum of the adult population with
neurofibromatosis is essential for the timely diagno-
sis and ultimate success in treatment of individuals
with this condition. ■
Julieanne P. Sees, DO is a Resident in Orthopaedic Surgery,
42 | Practical Neurology | January/February 2010
Case Report: Neurofibromatosis
Table 2 Cincinnati Children’s Hospital NF Center’s
Statistical Composite of Incidence in Children with NF-1
University of Medicine and Dentistry of New Jersey School of
Osteopathic Medicine, Stratford, NJ.
Joseph N. Daniel, DO is Associate Professor and Chief,
Department Orthopaedic Surgery, University of Medicine and
Dentistry of New Jersey School of Osteopathic Medicine,
Stratford, NJ.
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