A fifteen-year-old boy was referred to the Massachusetts General
Hospital Orthopaedic Oncology Service with a pathologic fracture
of the distal part of the left femur. He had been diagnosed previously
as having neurofibromatosis on the basis of a number of skin findings.
The patient had had two previous surgical procedures consisting
of curettage and bone graft packing for lesions in the distal parts
of both femora two years before admission. In addition, the patient
appeared to be mildly retarded and had a history of a moderately
severe learning disorder. The family history did not suggest the
presence of any familial disease, and specifically neurofibromatosis
had not been reported in any relative.
In addition to the findings associated with the left femoral fracture,
physical examination showed multiple, variously sized, smooth-margined
"coast of California"
caf�-au-lait
spots on the trunk and prominent bilateral axillary freckling
13,14
. No masses were found in the soft tissues, and no fibroma molluscum
bodies were detected in the subcutaneous tissues. Visual acuity
was normal, and no Lisch granules were seen. No cardiac, visceral,
spinal, central nervous system, or genital anomalies were noted.
The child was thought to be mildly to moderately retarded.
Laboratory studies revealed no abnormal findings. Plain radiographs
showed a fracture through a mildly expanded septated lytic lesion
extending from the diaphyseal region to the metaphyseal region of
the distal part of the left femur. Similar lytic lesions were found
in the distal part of the right femur, the proximal parts of the
left tibia and fibula, and the proximal part of the right tibia
(
Figs. 1-A
,
1-B
,
1-C
, and
1-D
). The radiographic features of these lesions were consistent with
a diagnosis of multicentric nonossifying fibromas. No radiographic
abnormalities were detected in the skull, spine, or upper extremities.
The patient underwent intralesional excision, curettage, allograft
strut-grafting, and plate fixation of the left femoral lesion. Six
months later, after the lesion in the left femur had healed, the
patient underwent a similar operation on the right femur. Histologic
findings in both lesions were consistent and indeed quite characteristic
of nonossifying fibroma (
Fig. 2
). At repeated visits more than a year after the second operation,
both treated lesions had healed and the grafts were well incorporated
without signs of recurrence (
Figs. 3-A
and
3-B
). Range of motion of both knees was normal, and the patient described
a full return to functional activity.
This patient was initially diagnosed with neurofibromatosis because
of the presence of multiple, smooth-bordered, truncal
caf�-au-lait
spots and bilateral axillary freckling, both of which are considered
to be frequently observed diagnostic signs of neurofibromatosis13,14.
The concurrent findings of multiple nonossifying fibromas and
caf�-au-lait
spots without accompanying neurofibromas, however, supported the
diagnosis of Jaffe-Campanacci syndrome8,15.
The diagnosis of this rare disease is usually made in the peripuberty
years (ten to fifteen years of age), although the age of presentation
may range from four years to more than eighteen years. Males and
females seem to be affected equally9-11,15. Most patients have no
family history of familial disease or neurofibromatosis (
Table I
). The patients often present with a pathologic fracture through
a nonossifying fibroma in the lower extremity. The clinical finding
of smooth-bordered "coast of California"
caf�-au-lait
spots and axillary freckling in association with multiple nonossifying
fibromas without accompanying skin, subcutaneous, or deeply placed
neurofibromas is considered to be characteristic of the Jaffe-Campanacci
syndrome.
Although Blau et al.
13
claimed that the nonossifying fibromas in Jaffe-Campanacci syndrome
appear more aggressive locally, the clinical management of the lesions
is the same as that of a solitary nonossifying fibroma or even familial
multiple nonossifying fibromas. The natural history of these fibromas
is also similar
13,15
. In addition to the possible diagnoses of neurofibromatosis and
multiple nonossifying fibroma syndrome, the only other likely diagnosis
to be considered is polyostotic fibrous dysplasia. Although this
syndrome has some similar features, it is relatively easy to distinguish
radiographically
16,17
as well as histologically and on the basis of the difference in skin
lesions ("coast of Maine" in fibrous dysplasia, and "coast of California"
in neurofibromatosis and Jaffe-Campanacci syndrome).
Of some interest is the observation by Mirra et al.
8
that osseous lesions in neurofibromatosis (except in the skull) are
often caused by erosion from extraosseous neurofibromas rather than
intramedullary lesions because myelinated nerves are probably not
present within the long bones. This concept supports the consideration
of Jaffe-Campanacci syndrome as a separate and distinct entity.
On the other hand, in 1982 Riccardi
15
classified neurofibromatosis into eight types, one of which (type
6) had no neurofibromas. In their case report, Steinmetz et al.
10
suggested that there is no clear evidence that the syndrome is a
type of neurofibromatosis or even that nonossifying fibromas ever
occur in neurofibromatosis. On the basis of these observations,
it seems that additional research needs to be performed. Since the
genetic errors for neurofibromatosis type 1 have been identified,
it may be possible to resolve this problem by genetic analysis of
patients with both Jaffe-Campanacci syndrome and multiple nonossifying
fibromas. The rarity of both of these disorders makes such studies
difficult, but it is hoped that this report will stimulate the performance of
research by physicians who see such cases.