university of zurich - uzh · 2010-11-29 · craniomaxillofacial fibrous dysplasia: a 10-year...
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Year: 2009
Craniomaxillofacial fibrous dysplasia: a 10-year database1996-2006
Kruse, A; Pieles, U; Riener, M O; Zunker, C; Bredell, M G; Grätz, K W
Kruse, A; Pieles, U; Riener, M O; Zunker, C; Bredell, M G; Grätz, K W (2009). Craniomaxillofacial fibrousdysplasia: a 10-year database 1996-2006. British Journal of Oral and Maxillofacial Surgery, 47(4):302-305.Postprint available at:http://www.zora.uzh.ch
Posted at the Zurich Open Repository and Archive, University of Zurich.http://www.zora.uzh.ch
Originally published at:British Journal of Oral and Maxillofacial Surgery 2009, 47(4):302-305.
Kruse, A; Pieles, U; Riener, M O; Zunker, C; Bredell, M G; Grätz, K W (2009). Craniomaxillofacial fibrousdysplasia: a 10-year database 1996-2006. British Journal of Oral and Maxillofacial Surgery, 47(4):302-305.Postprint available at:http://www.zora.uzh.ch
Posted at the Zurich Open Repository and Archive, University of Zurich.http://www.zora.uzh.ch
Originally published at:British Journal of Oral and Maxillofacial Surgery 2009, 47(4):302-305.
Craniomaxillofacial fibrous dysplasia: a 10-year database1996-2006
Abstract
Fibrous dysplasia is a rare bone disease caused by an abnormal proliferation of fibrous tissue in bone.We retrospectively evaluated eight patients (female to male ratio 3:1, mean age 22.5 years, range 10-32)with a monostotic form who were treated between 1996 and 2006. Two each were affected in the lowerjaw, the upper jaw, the midface, and the frontoparietal region. Most patients were referred because of apainless swelling. Biopsy specimens from two patients were examined, six patients had modellingosteotomies, two of whom had further operations because of progressive enlargement. There was novisual impairment or malignant transformation. Fibrous dysplasia should be treated as conservatively aspossible, but in cases of functional disturbance that results from malignant transformation, or from theinvolvement of the optic foramen or the foramen magnum, an immediate operation is needed.Disfigurement can be another reason for operation. When there is a risk of malignant transformation,follow-up of patients is recommended.
1
Craniomaxillofacial fibrous dysplasia: A 10-year database 1996-2006
A. Kruse a,*, U. Pieles b, M.O. Riener c, Ch. Zunker a , M.G. Bredell a, K.W. Grätz a
a Department of Craniomaxillofacial and Oral Surgery ,University Hospital Zurich,8091 Zurich b University of Applied Sciences Northwestern Switzerland, 4131 Muttenz c Department of Pathology, University Hospital Zurich,
Abstract
Fibrous dysplasia is a rare bone disease caused by an abnormal proliferation of
fibrous tissue in bone.
We retrospectively evaluated eight patients (female-male ratio: 3:1, mean age 22,5
years, range 10-32) with a monostotic form who were treated between 1996 – 2006
Two each were affected in the lower jaw, the upper jaw, the midface, and the
frontoparietal region.
Most patients were referred because of a painless swelling. Biopsy specimens from
two patients were examined six patients had modeling osteotomies, two of whom had
further operations because of progressive enlargement. There was no visual
impairment or malignant transformation.
Fibrous dysplasia should be treated as conservatively as possible, but in cases of
functional disturbance results from malignant transformation, or from the involvement
of the optic foramen or the foramen magnum, an immediate operation is needed.
Disfigurement can be another reason for operation.
When there is a risk of malignant transformation, follow-up of patients is
recommended.
2
Introduction
The term fibrous dysplasia was first mentioned by Lichtenstein in 1938.1 It is a rare
localized disease often associated with bony deformities caused by the abnormal
proliferation of fibrous tissue interspersed with normal or immature bone because of
poorly differentiated, mutated osteoblasts. Some authors suggest that greater
resorption of bone in affected areas2,3 is because of the activation of Gsα and
increased synthesis of IL6, a cytokine involved in the differentiation of osteoclasts.2,4
Fibrous dysplasia is found in 3% of all bony tumours and in over 7% of all non-
malignant tumours of bone.5,6
Malignant change is rare, roughly 0,5% for the monostotic form and 4% for McCune-
Albright syndrome.7,8 Yabut et al6 and identified reports of 83 cases (27 in facial
bones) of malignant degeneration in fibrous dysplasia; osteosarcoma was the most
common, followed by fibrosarcoma, and chondrosarcoma. Malignant transformations
were found mostly in the third or fourth decade of life. It is important to note that 28%
of these transformations were in patients who had had fibrous dysplasia lesions
radiated.
This disease can be divided into subtypes: roughly 70% are monostotic, roughly 30%
are polyostotic. It is also found in McCune-Albright syndrome (an association of
fibrous dysplasia), precocious puberty, endocrine abnormalities, and pigmented
cutaneous lesions in female patients. There seems to be no transition from one form
to the other. Fries found that the skull was involved in 28 patients (72%) with a
polyostotic form and in 11 (28%) with a monostotic form.9 The fronto-orbital region
was affected in 20% of patients.10
Differential diagnosis includes Paget disease, osteofibrous dysplasia, ossifying
fibroma, and sarcoma. The most useful diagnostic sign to fibrous dysplasia from
Paget disease is a ground glass bony matrix seen on a bone window on a computed
tomogram (CT) (Fig. 1) and caused by the admixture of fibrous and osseous
elements. Thin cortical tables, involvement of the orbit, nasal cavity, and maxilla are
also signs of fibrous dysplasia.11
Maki et al12 retrospectively studied 90 cases of fibrous dysplasia and 17 of
osteofibrous dysplasia. Osteofibrous dysplasia occurred only in the tibia or fibula. The
mean age of those with fibrous dysplasia was 24 years, compared with that of
patients with osteofibrous dysplasia, which was 12.9 years.
We retrospectively evaluated eight patients (female to male ratio 3:1, mean age 22.5
years, range 10-32) with a monostotic form who were treated between 1996 and
2006.
Fig1: Typical “ground glass” matrix and enlargement
of the frontal bone in the CT
Patients
Eight patients were referred to the Department of Cranio-Maxillofacial Surgery at the
University Hospital, Zurich between 1996 and 2006. The female to male ratio was
3:1, mean age 22,5 years (range 10-32).
Details about the patients’ age, sex, clinical presentation, radiological extent of
tumour, histopathology, microcomputed tomography (micro-CT), and treatment are
shown in Table 1.
Fig 2:bony enlargement on the left side of the lower jaw Fig 3: bony enlargement on the left side of the upper jaw
distribution of localisationfrontoparietal
25%
upper jaw25%
lower jaw25%
middleface25%
Table 1: distribution of localisation
3
4
Treatment
Fig 5:intraoperative view
Sex Age (years)
Site of lesion First symtoms Date of operation
Operation
F 9 Right lower jaw Bony cyst as additional diagnostic finding in Orthopantomogram
8/18/06 Modeling osteotomy
F 10 Right lower jaw Painless bony enlargement 1/20/04 Modeling osteotomy
F 1 Left upper jaw Painless bony enlargement 5/7/03 Modeling osteotomy
F 20 Left upper jaw Additional diagnostic finding 5/15/06 Biopsy
F 32 Right midface Asymmetry of the midface 5/15/02 Modeling osteotomy
M 32 Left midface Painless swelling upper jaw, slight exophthalmus, slight infraorbital hyposensibility
2/27/91
4/16/96
5/20/98
2/27/00
Modeling osteotomy
Modeling osteotomy lateral canthopexia
Genioplasty, lateral canthopexia
Modeling osteotomy
F 32 Right temporal Painless preauricular swelling 10/31/01 Biopsy
M 32 Right frontoparietal Supraorbital asymmetry 12/20/00
11/27/01
11/18/03
12/7/05
Modeling osteotomy, calvarial remodeling
Calvaria remodeling
Calvaria remodeling
Calvaria remodeling
Table 2: summary of the patients
Seven of eight patients were referred because of a painless swelling or asymmetry
(Fig.2 and 3), and one of a suspected bony cyst. Biopsy specimens were taken in two
cases (Fig 4). Six patients had modeling osteotomies, two of whom had further
operations: bimaxillary osteotomy and calvarial remodeling.
The histological findings of all patients were similar with features of osseous and
fibrous lesions. The osseous component consisted of trabeculae of woven bone with
eminating collagen fibers. The trabeculae lacked an osteoblastic rimming. Bland
spindle cells with no mitotic figures were interspersed. There were no definable
borders (Fig 5).
Figure 6: Fibrous-osseous lesion with trabeculae of woven bone and interosseous spindle cells, H&E, x50.
5
Figure 7: Woven bone with eminating collagen fibers (arrow), EvG, x100.
The bony samples (0.5 cm) with fibrous dysplasia were examined with a SkyScan
1172 microcomputer tomograph (Skyscan, Kontich, Belgium) using a fan beam.
Images were obtained with an aluminium filter and reconstructed with a three-
dimensional DICAM medical viewer (Osirix®). The trabecular structure is partly not
recognisable because the bone has been remodelled (Fig. 6a and b).
Fig 8a: fibrous dysplasia with disintegrated trabecular structure Fig 8b: same sample with higher translucency
Discussion
Opinions about treatment range from various surgical methods to medical treatment
such as pamidronate given intravenously,13,14 but it is clear that a conservative
approach may not be suitable in all cases of craniofacial fibrous dysplasia.
Pamidronate 60mg/day given intravenously on 3 successive days to reduce
osteoclastic activity has been given every 6 months for 18 months. It resulted in a
decreasing intensity of bony pain, reduced bony resorption, and improved
radiological features such as filling of lytic lesions in about half of the patients.14
The use of calcitonin is not supported universally; some authors report good
results,15 while others report poor.16,17
We recommend that vitamin D and calcium supplements are given because
concentrations of serum calcium are low.3
Many factors have to be considered when deciding about further treatment. One is
the aesthetic implication for the patient, but functional impairment should take
precedence.
In thinner bone, such as the orbital plate of the maxillary, ethmoid and frontal bones,
the cortex expands more rapidly and to a greater degree than in thicker cortical
bone.19 When the orbit is involved compression and subsequent distortion of the
globe can cause errors in refraction, focusing, and accommodation,20 so immediate
6
removal of the dysplastic process and decompression of the optic nerve canal is
necessary. Visual loss in fibrous dysplasia is caused by the progressive compression
of venous drainage of the optic nerve, which leads to reduced retinal perfusion.21
Operation is also essential when the foramen magnum is affected to prevent life-
threatening conditions.
Chen and Noordhoff based surgical treatment on four areas of involvement: excision
of dysplastic bone and reconstruction with autogenous bone graft in the fronto-orbit,
nasal ethmoid and upper maxilla, or the conservative shaving of the parietal and part
of the occipital bone.
Orthognathic operations can be done to restore occlusion and correct disproportion
of the jaw when tooth-bearing bone is involved. Yeow and Chen23 we achieved long-
term stability of the occlusion in one of our patients.
The risk of developing sarcoma is 400times higher in patients who have been treated
previously with radiation than in non-radiated patients. Radiotherapy should not be
used to treat fibrous dsysplasia.5 When there is a risk of malignant degeneration
follow-up of these patients is recommended. Schwarz and Alpert24 found that there
was a mean interval of 13.5 years between diagnosis of fibrous dysplasia and the
development of malignancy.
References
1. Albright f, Butler AM, Hampton AO, et al: Syndrome characterized by osteitis fibrosa
disseminata, areas of pigmentation and endocrine dysfunction, with precococius puberty in
females. N Engl J Med 216:727-746;1937.
2. Bell NH, Avery S, Johnston CC Jr. Effects of calcitonin in Paget's disease and polyostotic
fibrous dysplasia. J Clin Endocrinol Metab. 1970 Sep;31(3):283-90.
3. Bland LI, Marchese MJ, McDonald JV. Acute monocular blindness secondary to fibrous
dysplasia of the skull: a case report. Ann Ophthalmol. 1992 Jul;24(7):263-6.
4. Chapurlat RD. Medical therapy in adults with fibrous dysplasia of bone. J Bone Miner Res.
2006 Dec;21 Suppl 2:P114-9.
5. Chen YR, Noordhoff MS. Treatment of craniomaxillofacial fibrous dysplasia: how early and
how extensive? Plast Reconstr Surg. 1991 Apr;87(4):799-800.
7
6. Collins MT: Spectrum and Natural History of Fibrous Dysplasia of Bone. J Bone Miner Res.
2006 Dec;21 Suppl 2:99-104.
7. Corsi A, Collins MT, Riminucci M, Howell PG, Boyde A, Robey PG, Bianco P. Osteomalacic
and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical
correlations. J Bone Miner Res. 2003 Jul;18(7):1235-46.
8. Edgerton MT, Persing JA, Jane JA. The surgical treatment of fibrous dysplasia. With
emphasis on recent contributions from cranio-maxillo-facial surgery. Ann Surg. 1985
Oct;202(4):459-79.
9. Fries JW. The roentgen features of fibrous dysplasia of the skull and facial bones; a critical
analysis of thirty-nine pathologically proved cases. Am J Roentgenol Radium Ther Nucl Med.
1957 Jan;77(1):71-88.
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Reconstr Surg. 2006 Sep-Oct;22(5):383-7.
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and associated lesions. Yonsei Med J. 2007 Jun 30;48(3):502-10.
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Kawaguchi N. Malignant change secondary to fibrous dysplasia. Int J Clin Oncol. 2006
Jun;11(3):229-35.
14. Jackson IT, Hide TA, Gomuwka PK, Laws ER Jr, Langford K. Treatment of cranio-orbital
fibrous dysplasia. J Maxillofac Surg. 1982 Aug;10(3):138-41.
15. Katz BJ, Nerad JA. Ophthalmic manifestations of fibrous dysplasia: a disease of children and
adults. Ophthalmology. 1998 Dec;105(12):2207-15.
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Koyano HM, Mochizuki R, Miki T, Inaba M, Nishizawa Y. Expression of FGF23 is correlated
with serum phosphate level in isolated fibrous dysplasia. Life Sci. 2006 Apr 11;78(20):2295-
301. Epub 2005 Dec 7.
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Curtin J. Bisphosphonate therapy in fibrous dysplasia. Clin Orthop Relat Res. 2001
Jan;(382):6-12.
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19. Long A, Loughlin T, Towers RP, McKenna TJ. Polyostotic fibrous dysplasia with contrasting
responses to calcitonin and mithramycin: aetiological and therapeutic implications. Ir J Med
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and Temporal Bone. Arch Otolaryngol Head Neck Surg,(127) 2007: 1239-1247.
21. Maki M, Saitoh K, Horiuchi H, Morohoshi T, Fukayama M, Machinami R. Comparative study of
fibrous dysplasia and osteofibrous dysplasia: histopathological, immunohistochemical,
argyrophilic nucleolar organizer region and DNA ploidy analysis. Pathol Int. 2001
Aug;51(8):603-11.
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dysplasia. J Craniofac Surg. 2002 May;13(3):382-9.
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Bone Miner Res. 2006 Dec;21 Suppl 2:P120-4.
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Fig1: typical “groundglass” matrix and enlargement
of the frontal bone in the CT
Fig 2:bony enlargement on the left side of the lower jaw Fig 3: bony enlargement on the left side of the upper jaw
1
Fig 5:intraoperative view
sex age (y)
location side first symtoms visual
impairment
date of surgery
kind of surgery malign. transfor.
f 9 lower jaw right “bone cyst” as additional diagnostic finding in OPT
no 8/18/06 modeling osteotomy no
f 10 lower jaw right painless bony enlargement no 1/20/04 modeling osteotomy no
f 13 upper jaw left painless bony enlargement no 5/7/03 modeling osteotomy no
f 20 upper jaw left additional diagnostic finding no 5/15/06 biopsy no
f 32 middle face right asymmetry of the middle face no 5/15/02 modeling osteotomy no
m 32 middle face left painless swelling upper jaw, slight exopthalmus, slight hyposensibiliy infraorbital
no 2/27/91
4/16/96
5/20/98
2/27/00
modeling osteotomy
modeling osteotomy, lat. kanthopexia
bimax.osteotomy, genioplastic, lat.kanthopexia
modeling osteotomy
no
f 32 temporal right painless swelling preauricular no 10/31/01 biopsy no
m 32 frontoparietal right asymmetry supraorbital no 12/20/00
11/27/01
11/18/03
12/7/05
modeling osteotomy, calvaria remodeling
calvaria remodeling
calvaria remodeling
calvaria remodeling
no
Table 2: summary of the patients
1
Figure 6: Fibrous-osseous lesion with trabeculae of woven bone and interosseous spindle cells, H&E, x50.
Figure 7: Woven bone with eminating collagen fibers (arrow), EvG, x100.
2