Fibrous dysplasia – differential diagnosis of cystic lesions in the proximal femur:a case report
© Endres and Wilke; licensee BioMed Central Ltd. 2009
Received: 19 November 2008
Accepted: 08 January 2009
Published: 08 January 2009
We are reporting about the case of a 22-year old woman, who made a first visit as an outpatient with pain that arose in acute form in the area of the left groin. The patient history did not indicate a preceding trauma, or an inflammatory or malignant disease.
Conventional X-ray showed the image of a cystic lesion in the area of the neck of the thigh [collum femoris] with pathological fracture in the area of the calcar. The MRT produced the diagnosis of an aneurismal bone cyst, in which the presence of juvenile bone cyst or a giant cell tumor could be taken into consideration by differential diagnosis.
Owing to the pathological fracture, repair by operation of the lesion was carried out by means of spongioplastic surgery and internal fixation (DHS).
Histology produced characteristic findings fitting the condition of fibrous dysplasia, which was not included among the primary causes in the considerations offered by differential diagnosis.
Therefore, this case is a good example of the fact that fibrous dysplasia must be taken into account when using differential diagnosis as one of the cystic lesions.
Polyostotic fibrous dysplasia is a rare disease, which was already described in 1938 by Lichtenstein. In a later publication with Jaffé he also described the monostotic form of the disease . Today we divide fibrous dysplasia into several forms and syndromes: the monostotic form, the polyostotic form, the McCune-Albright-Syndrome and the Mazabraud-Syndrome.
Owing to the different manifestation forms of the symptoms, when making the diagnosis of the polyostotic form as well as of McCune-Albright-Syndrome, most cases already occur in young age (85% between the 2nd and 30th year of life), whereas the monostotic form is often detected as an accidental finding. Fibrous dysplasia represents approximately 2,5% of all bone lesions, as well as 7% of all benign bone tumors . The distribution shows minimal preference towards the female sex (m:f = 1:1,2) . However, present international epidemiological data are not available.
We are reporting about the case of a 22-year old woman, who made a first visit as an outpatient with pain that arose in acute form in the area of the left groin. The complaints occurred in acute form without preceding trauma and led to inability to put stress on the left leg. Until the occurrence of this acute pain the patient was free of complaints and active in sports.
The physical examination produced pain on pressure in the groin as well as pronounced pain on movement of the left hip joint mainly during inner rotation. There were no neurological deficits. Soft tissue, blood circulation and sensorimotor function of the lower extremities were intact. Similarly there were no signs of an acute infection or general disease symptoms such as fever, night sweat or loss of weight. The ultrasound of the inguinal region carried out subsequently revealed an intraarticular exudate of the left hip joint, so that conventional X-ray examination was initiated.
The blood test showed an increase of the alkaline phosphatase to 115 U/l (reference value: 35–104 U/l) otherwise with parameters of normal value.
Relying on differential diagnosis an aneurismal bone cyst, giant cell tumor and juvenile bone cyst were discussed.
Postoperatively the histological examination of the bone material taken intraoperatively made the diagnosis of fibrous dysplasia, which was not taken into consideration in the preoperative considerations during differential diagnosis.
For the assessment of the distribution pattern in conclusion bone scintigraphy was still performed, according to which a monoostotic form of fibrous dysplasia affected the patient.
Clinically the disease of fibrous dysplasia manifests itself in the form of more or less painful bone deformities, growth disorders and in part extensive osteolyses with transformation zones including spontaneous fracture. Malignant transformations into high-grade-fibro- or osteosarcomas are very rare.
Preferred sites are the long hollow bones, which in some cases are affected in their entirety. Thus the rate of distribution of the lesions run to about 36% affecting the femur, 19% affect the tibia, the ribs and also the calvaria are affected in 10% and 17%, respectively .
On X-ray characteristic changes appear, such as the pathognomonic milk glass aspect with reactive peripheral sclerosis, bone expansions, indentations of the inner cortical area and in the femur often the classical shepherd's staff deformity owing to the repetitive microfractures.
By laboratory chemistry the bone metabolism parameter changes in the case of fibrous dysplasia are not necessarily pathognomonic. Nevertheless in the case of the polyostotic form, mostly increases of the alkaline phosphatase (AP) and of the osteocalcin appear. Likewise increased collagen metabolites could be demonstrated (N-Telopeptide).
Furthermore by differential diagnosis secondary osteopathies should be ruled out, e.g. within the scope of hyperparathyroidism.
Until about one decade ago the therapy of fibrous dysplasia was largely limited to surgical interventions. Meantime curettage and the filling up of individual foci have gained importance as the definitive choice of treatment, primarily in the case of the monostotic form as well as with smaller symptomatic foci.
In the case of the polyostotic form increasingly a bisphosphonate therapy is used. The first attempt at therapy with the new generation of bisphosphonates was started at the end of the 1980's. Several case studies with Pamidronat showed positive effects exerted on bone density (BMD) and the reduction of pain .
In the present case the osteolytic lesion of the proximal femur was categorized as a radiologically benign tumor.
By differential diagnosis on the basis of the MRT finding, an aneurysmal or juvenile bone cyst as well as the diagnosis of a giant cell tumor was given consideration.
Owing to the fracture that has already occurred, correction by operation was done. Histologically the definitive diagnosis of fibrous dysplasia was produced in conclusion.
Fortunately it came to light in the case of the patient within the scope of the follow-up examination that it had to do with a monoostotic form of fibrous dysplasia. In this way the correction was done by surgery in spite of a preoperatively false diagnosis, in accordance with the recommendations of the present literature [13–15].
On the basis of this case report it can be shown that in all cases of an osteolytic lesion it is important to carry out an exact preoperative diagnosis. Furthermore the diagnosis of fibrous dysplasia should be included into the differential diagnosis in order to be able to make with the right decision on therapy in the end.
I confirm that informed written consent was received for publication of the manuscript.
- Isefuku S, Hatori M, Ehara S, Hosaka M, Ito K, Kokubun S: Fibrous dysplasia arising from the calcaneus. Tohoku J Exp Med. 1999, 189: 227-32. 10.1620/tjem.189.227.View ArticlePubMedGoogle Scholar
- Mirra JM, et al: Bone Tumors. 1989, Lea & Febiger, Philadelphia, 191.Google Scholar
- Ozaki T, Sugihara M, Nakatsuka Y, Kawai A, Inoue H: Polyostotic fibrous dysplasia. A long-term follow up of 8 patients. Int Orthop. 1996, 20: 227-32. 10.1007/s002640050069.View ArticlePubMedGoogle Scholar
- Lichtenstein L, Jaffe HL: Fibrous dysplasia of bone. Arch Pathol. 1942, 33: 777-816.Google Scholar
- Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD: Fibrous dysplasia. J Am Acad Orthop Surg. 2004, 12: 305-13.PubMedGoogle Scholar
- Egner S, Dobnig H, Welkerling H, Windhager R: Der Stellenwert der Bisphosphonate in der Behandlung der polyostotischen fibrösen Dysplasie. Journal für Mineralstoffwechsel. 2003, 10 (2): 16-19.Google Scholar
- Maldonado I, Catalano E, Reginato AJ: Pathologic fracture of the femoral neck in a female soccer player. J Clin Rheumatol. 2002, 8 (1): 30-4. 10.1097/00124743-200202000-00007.View ArticlePubMedGoogle Scholar
- Durand S, Hamcha H, Pannier S, Padovani JP, Finidori G, Glorion C: Fibrous dysplasia of the proximal femur in children and teenagers: surgical results in 22 cases. Rev Chir Orthop Reparatrice Appar Mot. 2007, 93 (1): 17-22.View ArticlePubMedGoogle Scholar
- Shih HN, Chen YJ, Huang TJ, Hsu KY, Hsu RW: Treatment of fibrous dysplasia involving the proximal femur. Orthopedics. 1998, 21 (12): 1263-6.PubMedGoogle Scholar
- Keijser LC, Van Tienen TG, Schreuder HW, Lemmens JA, Pruszczynski M, Veth RP: Fibrous dysplasia of bone: management and outcome of 20 cases. J Surg Oncol. 2001, 76: 157-66. 10.1002/jso.1028.View ArticlePubMedGoogle Scholar
- Onoda S, Hatori M, Yamada N, Hosaka M, Kokubun S: A two-stage surgery for severe femoral neck deformity due to fibrous dysplasia: a case report. Ups J Med Sci. 2004, 109: 123-9.View ArticlePubMedGoogle Scholar
- Weinstein RS: Long-term aminobisphosphonate treatment of fibrous dysplasia: Spectacular increase in bone density. J Bone Min Res. 1997, 8: 1314-5. 10.1359/jbmr.19220.127.116.114.View ArticleGoogle Scholar
- Chapurlat RD, et al: Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. J Bone Min Res. 1997, 12: 1746-52. 10.1359/jbmr.1918.104.22.1686.View ArticleGoogle Scholar
- Stephenson RB, London MD, Hankin FM, Kaufer H: Fibrous dysplasia. An analysis of options for treatment. J Bone Joint Surg Am. 1987, 69: 400-9.PubMedGoogle Scholar
- Parisi MS, et al: Bone mineral density response to long-term bisphosphonate therapy in fibrous dysplasia. J Clin Densito. 2001, 4: 167-72. 10.1385/JCD:4:2:167.View ArticleGoogle Scholar
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.