1HOD & Professor, Department of Orthopaedics, JJM Medical College, Davangere, Karnataka, India
2Junior Resident, Department of Orthopaedics, JJM Medical College, Davangere, Karnataka, India
2Junior Resident, Department of Pathology, JJM Medical College, Davangere, Karnataka, India
Submission: January 25, 2019;Published: February 14, 2019
*Corresponding author: Madhan Jeyaraman, Junior Resident, Department of Orthopedics, JJM Medical College, Davangere, Karnataka, India
How to cite this article: Ravinath TM, Madhan Jeyaraman, Kartavya Chaudhari, Ajay SS, Prajwal GS. Polyostotic Fibrous Dysplasia of Humerus and Radius – A Rare Case Report. Ortho & Rheum Open Access J 2019; 13(4): 555868. DOI: 10.19080/OROAJ.2019.13.555868
Introduction: Fibrous dysplasia (FD) is a fibro-osseous benign lesion characterized by replacement of osseous tissue with fibrous tissues. FD is due to mutation of Gsα gene. FD has equimodal sex distribution and spans in the age group from 1st to 7th decade. The various forms of FD are monostotic, polyostotic and panosttotic FD. Malignant transformation in fibrous dysplasia is about 0.4-4% Treatment aspect involves use of bisphosphonates or prophylactic surgical management. Recurrence of fibrous dysplasia is very rare when the lesion has occurred in adults.
Case Report: 20 years old female patient presented with pain and deformity over right arm and forearm from past 5 years. The patient noticed a visible deformity over right arm which was gradually progressive and associated with increased intensity of pain. On examination, diffuse tenderness and visible deformity were noted over right arm and forearm. There were no abnormal mobility or crepitus in right arm and forearm segments. The range of movements over right shoulder, right elbow and right wrist were near normal with terminal painful movements. Elevation of serum ALP and low levels of vitamin D3 were noticed. Radiography of right arm and forearm shows the evidence polyostotic pattern of fibrous dysplasia of whole length humerus and radius with ulnar sparing. The patient was posted for open biopsy of distal humerus and subjected for histopathological examination which confirmed the diagnosis. The patient has been managed with bisphosphonates, calcium and vitamin D3 supplementation.
Discussion: Fibrous dysplasia is a non-neoplastic fibrous tissue proliferative disorder of bone. Since the patient does not have any symptoms of imminent fracture, she has been managed conservatively with oral bisphosphonates, calcium and vitamin D3 supplementation for 24 weeks. Every month patient is assessed with radiographs and serum vitamin D3, calcium, phosphorus and alkaline phosphate. The patient is followed up for one year which show no recurrence, decreased pain and improved functional quality of life.
Conclusion: Early diagnosis and treatment of fibrous dysplasia must be administered to prevent complications. A long term follow up is needed to evaluate the recurrence, disappearance of deformity and malignant transformation.
Fibrous dysplasia (FD) is a non-neoplastic, benign, fibro-osseous condition characterized by replacement of bone with fibrous tissues . FD represents 5 – 7 % of all benign bone tumours. The pathogenesis involved in development of fibrous dysplasia is unclear but recent studies suggest that genetic factors are responsible for fibrous dysplasia. FD is linked with mutation of Gsα gene located in chromosome 20q13.2-13.3 . FD appears in equimodal distribution in males and females. The most frequent site of disease manifestation is maxilla, proximal femur, tibia > humerus, ribs, radius and iliac bone. The forms of FD are monostotic, polyostotic and panostotic FD. Polyostotic FD is associated with McCune-Albright syndrome and endocrinal disturbances . Fibrous dysplasia is seen in metaphysis of long bones. This article outlines a case of polyostotic fibrous
dysplasia of humerus and radius in a menstrually active female patient without features of McCune Albright syndrome with ulnar sparing. The patient has been subjected for biopsy to confirm the diagnosis and managed conservatively with bisphosphonates, calcium and vitamin D3 supplementation. The patient was followed up for 1 year for recurrence of disease and the functional outcome.
Here we report a case of 20 years old female patient came to JJM Medical College with a chief complaint of pain and deformity over right arm and forearm from past 5 years. The onset of pain over right arm and forearm was insidious, dull aching, non-progressive, non-radiating, aggravated on movements and partially relieved by rest and medications. The patient noticed a visible deformity over right arm which was gradually progressive
and associated with increased intensity of pain. The patient had
no clinical evidence of thyroid or menstrual disturbances.
On examination, diffuse tenderness was noted over right
arm and forearm. An obvious visible deformity of arm was seen.
There were no abnormal mobility or crepitus in right arm and
forearm segments. The range of movements over right shoulder,
right elbow and right wrist were near normal with terminal
painful movements. Thyroid and spine were clinically normal.
b) Renal Function Tests – Urea 34 mg/dL and creatinine
c) Random blood glucose – 78 mg/dL
d) HIV and HbsAg – Non reactive
e) Serum calcium – 5.7 mg%
f) Serum phosphorus – 4.2 mg%
g) Serum alkaline phosphatase – 1479 IU/L
h) Serum Vitamin D3 – 4.9 ng/mL
i) Radiography of right arm and forearm shows the
evidence of expansile, lytic lesion over metaphysis and
diaphysis of humerus and radius showing ground glass
matrix without any significant periosteal reaction suggestive
of polyostotic pattern of fibrous dysplasia with complete
sparing of ulna (Figures 1a & 1b).
j) CT scan of right arm and forearm shows polyostotic
pattern of fibrous dysplasia of right humerus and radius
with ulnar sparing (Figures 2a-2d)
After taking informed and written consent, patient was
subjected for biopsy of the lesion. Open biopsy of the lesion
was performed under GA over distal end of right humerus. The
biopsy report shows trabeculae of woven bone which lacks
osteoblastic rimming in a Chinese letter pattern surrounded by
fibroblastic proliferation admixed with few osteoclast-like giant
cells (Figures 3a & 3b).
Then the patient was treated with oral risedronate 35 mg
once weekly for 24 weeks, calcium and vitamin D3 combination
tablets once daily for 6 months. The patient was reviewed every
month with serial X rays (Figures 4a-4d) and serum calcium,
phosphorus, alkaline phosphatase and vitamin D3 levels to
monitor the response to treatment. The patient has been
explained about the natural course, outcome and prognosis
of the disease. Reassurance was given and the patient was
discharged with the advice to retard heavy weight lifting and to
perform daily routine activities with caution which will improve
the functional quality of life.
Fibrous dysplasia is a developmental anomaly of the bone
characterized by replacement of normal bone and bone marrow
by a fibrous tissue. It is a benign fibro-osseous intramedullary
lesion, usually involving the long bones . Fibrous dysplasia is
caused by mutation in the GNAS1 (guanine nucleotide binding
protein, alpha stimulating activity polypeptide) gene (20q13.2-
13.3) and this gene encodes a G-protein which results in
overproduction of cAMP in the affected tissues. Furthermore,
there is increased the proliferation of melanocytes thus results
in cafe-au-lait spots. The cAMP has effect on the differentiation
of osteoblasts .
In fibrous dysplasia, the differentiation of stromal cells is
arrested and undergo proliferation into fibro-osseous mass of
tissue. Arrest in this differentiation is due to the mutation of the
GNAs gene which codes alpha subunit of signalling G- protein. In
> 95% cases arginine is replaced by either cysteine or histidine
(R201C or R201H). This result in inhibition of intrinsic GTPase
activity of Gs alpha protein and it is this aspect that leads to
constitutive, ligand-independent generation of intercellular
cAMP. IL–6 secretion is responsible for increased osteoclastic
activity seen in fibrous dysplasia [2,3].
Fibrous dysplasia has three clinical patterns namely
monostotic, polyostotic or panostotic. Monostotic FD (70 – 85%)
occurs in single bone and ceases with the onset of menarche.
Polyostotic FD (10 – 15%) occurs in multiple bones in a unilateral
distribution and tends to continue after skeletal maturity and
leads to severe skeletal deformity. 3% of lesions are associated
with skin hyperpigmentation and hyper-functioning endocrine
disorders which is known as McCune-Albright syndrome
[3,4]. Panostotic FD (<1%) is very rare and occurs throughout
the body. Pain, fractures and deformity are the common
clinical presentation of fibrous dysplasia. Abnormal growth of
craniofacial bones will result in entrapment of cranial nerves.
Oestrogen receptors are excess in this condition resulting in
increased pain level during menstrual cycle and pregnancy [5,6].
Malignant transformation in fibrous dysplasia is about 0.4-
4% which is most likely to occur in polyostotic forms . Most
common histological types of malignant transformation are
osteosarcoma, chondrosarcoma and fibrosarcoma. Treatment
aspect involves use of bisphosphonates for inhibiting osteoclastic
resorption, various studies shows high dose IV pamidronate for
decreasing pain and the markers of bone metabolism .
Management of fibrous dysplasia depends on symptoms.
Asymptomatic FD patients’ needs no surgical management .
Symptomatic FD patients require medical management in the
form of bisphosphonates and prophylactic management in the
form of curettage and bone grafting. If patients present with
impending fracture, then prophylactic fixation with load sharing
devices . Recurrence of fibrous dysplasia is very rare when
the lesion has occurred in adults. The reason behind recurrence is because of inadequate medical management and unsuccessful
removal of lesion. Patients with craniofacial FD have 15% to 20%
of recurrence. The hematological marker for recurrence of FD
is serum alkaline phosphatase. Park et al confirmed the higher
serum ALP levels indicates the progression of tumour .
The differential diagnosis for fibrous dysplasia is chondroma,
simple bone cyst, non-ossifying fibroma, adamantinoma,
chondroblastoma and low-grade intramedullary osteosarcoma
Our patient has presented with pain and deformity over right
arm and forearm from past 5 years. She was further evaluated
which shows the elevation of serum alkaline phosphatase and
decreased serum vitamin D3 levels. Radiograph of right arm
and forearm shows the classical features of polyostotic fibrous
dysplasia with ulnar sparing and without any pathological
fractures. CT scan of right arm and forearm outlined the
delineation between normal and diseased process of the bony
architecture. The patient was offered for open biopsy of right
distal humerus with GA. Then the histopathological report
showed trabeculae of woven bone which lacks osteoblastic
rimming in a Chinese letter pattern surrounded by fibroblastic
proliferation admixed with few osteoclast-like giant cells which
confirmed the diagnosis of polyostotic fibrous dysplasia of
humerus and radius with ulnar sparing (Table 1).
The patient was offered with medical management with
tablet risedronate 35 mg once weekly, tablet calcium aspartate
500 mg once daily and capsule vitamin D3 60,000 U once weekly
for a total duration of 24 weeks. The patient was followed up
every monthly interval with serial radiographs and serum
calcium, phosphorus, alkaline phosphatase and vitamin D3
levels which were normalized at the end of 1 year follow up.
The patient was further followed up for 1 year which show no
recurrence, malignant transformation over the existing lesion,
decreased intensity of pain and improved functional quality of
Early diagnosis and treatment of fibrous dysplasia must
be administered to prevent complications. A long term follows
up is needed to evaluate the recurrence, disappearance of
deformity and malignant transformation. The combination of
bisphosphonates, calcium and vitamin D3 supplementation
forms the gold standard treatment modality of symptomatic
cases without the signs of fractures.