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 Case Report
Polyostotic Fibrous Dysplasia without Craniofacial Involvement: An
Unusual Presentation
Abstract
Fibrous dysplasia  (FD) is a benign bone disorder resulting into the replacement of bone with
fibrous tissue. These fibrous bones are prone for deformities, pain, and pathological fractures, hence
requiring treatment. We report a case of polyostotic FD without craniofacial involvement.
Keywords: Dysplasia, polyostotic, precocious
Introduction
Fibrous dysplasia  (FD) is an uncommon,
sporadic disorder of the fibro‑osseous
skeleton characterized by the replacement
of bone with fibrous tissue.[1,2] The lesion
was first described by Lichtenstein[3] in
1938. In 1937, Albright et  al.[4] described a
syndrome characterized by polyostotic FD
that included areas of pigmentation, skeletal
changes, and endocrine failure. FD is caused
by somatic mutation of the GNAS gene,
coding Gs alpha protein, which regulates
cAMP.[5] When FD affects only one bone,
it is called monostotic FD, and in multiple
bone involvement, it is called polyostotic
FD.[1,6] In addition to these forms, there is
a hereditary familial form of localized FD,
which is called cherubism described by
Jones.[7] FD accounts for nearly 5% of the
benign bone lesions. The monostotic FD is
8–10 times more common than polyostotic
FD. There is no sexual predilection
in FD, except for McCune–Albright
syndrome (MAS) which affects females
exclusively. The polyostotic form usually
is seen in children younger than 10 years,
whereas monostotic form typically is found
in slightly older age group.[8] Widespread
involvement of the skeleton is possible
along with varying combinations of café au
lait skin spots and/or endocrine dysfunction
such as precocious puberty, renal phosphate
wasting, hyperthyroidism, and/or growth
hormone excess. Pain at the involved site is
the most common symptom, although more
common in adults as compared to children.
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© 2018 Journal of the Scientific Society | Published by Wolters Kluwer - Medknow
Seema Sharma,
Milap Sharma,
Parvinder Singh,
Vipin Sharma1
Departments of Pediatrics and
1
Orthopaedics, Dr. Rajendra
Prasad Government
The diagnosis of FD is possible only by the Medical College, Kangra,
clinical assessment and typical radiological Himachal Pradesh, India
appearance, i.e., the ground‑glass
appearance. Confirmation of the diagnosis
can be done with biopsy which shows
“Chinese letter pattern.” The skeletal sites
involved in FD are established most of the
times in childhood. Monostotic FD has a
different skeletal involvement compared to
polyostotic FD. Craniofacial involvement
in FD occurs in nearly 100% of polyostotic
and 30% of monostotic forms.[9] We
report the case of a 7‑year‑old male child
with polyostotic FD without craniofacial
involvement.
Case Report
A 7‑year‑old male child, second child of
nonconsanguineous marriage, presented
with pain and swelling of the right lower
limb along with difficulty in walking for
2½ months. The pain and swelling in the
right lower limb were preceded by fall over
the right ankle joint while walking. There
was no apparent internal or external bleed. Address for correspondence:
There was no history of weight loss, fever, Dr. Seema Sharma,
night sweats, and decreased appetite. On House No. 23, Block‑B,
examination, vitals were stable, and general Type‑V, Dr. Rajendra Prasad
Government Medical College,
and systemic examination was normal. On Kangra at Tanda,
local examination, tenderness was present Himachal Pradesh, India. 
over the proximal and distal parts of the right E‑mail: dr.seema73.ss@gmail.
lower limb. Fundus examination revealed com
macular choroiditis of the left eye. Keeping
in view testicular volume <4 ml and no Access this article online
pubic hair, patient was categorized as Tanner
Website: www.jscisociety.com
Stage 1. Laboratory investigations showed
hemoglobin 11.4 g/dl, total leukocytes count DOI: 10.4103/jss.JSS_10_18
5400/µl, erythrocyte sedimentation rate Quick Response Code:
How to cite this article: Sharma S, Sharma M,
Singh P, Sharma V. Polyostotic fibrous dysplasia
without craniofacial involvement: An unusual
presentation. J Sci Soc 2018;45:93-6.
93
 Sharma, et al.: Polyostotic fibrous dysplasia without craniofacial involvement

10 mm in 1st h, serum calcium 9 mg/dl, serum phosphorus

4.7  mg/dl, serum alkaline phosphatase  (ALP) 261 U/L,
serum 25‑hydroxyvitamin D 15.95 ng/mL, serum blood
urea nitrogen 10 mg/dl, serum creatinine 0.2 mg/dl, and
serum prolactin 8.89  ng/mL. Thyroid profile and urine
examination were normal. X‑rays [Figures 1 and 2] showed
radiolucent lesions in metaphyseal ends of the right femur,
right tibia. X‑rays of the left side of the appendicular
skeleton, skull, and chest were within normal limit.
Computed tomography (CT) scan of the right leg [Figure 3]
was suggestive of multiple cystic lesions involving the
metaphyseal ends of right tibia and femur with well‑defined
sclerotic margins, endosteal scalloping, but no periosteal
reaction, so kept the possibility of polyostotic FD. Injection
pamidronate at 1 mg/kg was given over 3 days and repeated
every 3 months. Calcium and Vitamin D (1000 mg and Figure 1: X‑rays showing radiolucent lesions in metaphyseal ends of the
right tibia and distal end of the right femur
6 lakh U) were also started after giving the injection
pamidronate. All these interventions resulted in significant
improvement in this child without any adverse effects. In
our case, there was no compelling indication to seek a
biopsy, any sudden change in the clinical presentation, or
behavior of the lesion might warrant further investigation in
future.

Discussion
FD is an uncommon developmental disorder of the
bone resulting in conversion of normal bone and
marrow into fibrous tissue. Such bones are prone for
pathological fractures, pain, deformities, and functional
impairment.[10] FD is essentially a disease of young
population with incidence of 1:4000–1:10,000. FD is
a benign disease resulting from postzygotic activating
mutations of the GNAS locus at 20q13.2‑q13.3, which Figure 2: X‑ray showing radiolucent lesions in metaphyseal end of the
proximal right femur
codes for the alpha subunit of the Gs G‑coupled protein
receptor.[5] Gs alpha is central in the cell signal pathway
that leads to the generation of the intracellular second
messenger, cAMP. cAMP is involved in the signal
transduction from multiple cell surface receptors, including
parathyroid hormone, follicle‑stimulating hormone,
luteinizing hormone, thyroid‑stimulating hormone, and
melanocyte‑stimulating hormone. The defect in Gs
alpha explains the molecular etiology of the association
of extra skeletal manifestations with FD. In bone, this
activating mutation results in impaired differentiation and
proliferation of bone marrow stromal cells. These cells
form the structural framework upon which hematopoiesis
occurs in the bone marrow, and a subset of these cells are
multipotent cells capable of differentiating into multiple
cells, namely osteoblasts, osteocytes, chondrocytes, and
bone marrow adipocytes. In FD, these cells are proliferated Figure 3: Computed tomography scan of the right lower limb showing
along with arrest of the normal differentiation resulting into multiple cystic lesions involving the metaphyseal ends of right tibia with
well‑defined sclerotic margins, endosteal scalloping, but no periosteal
formation of fibro‑osseous skeleton. Disease can involve reaction
one bone (monostotic) or multiple (polyostotic) and may
occur in isolation or in combination with café au lait skin as MAS.[11] Bones of the face and skull are frequently
macules and hyperfunctioning endocrinopathies termed involved, resulting in asymmetry and spontaneous fractures.

94 Journal of the Scientific Society | Volume 45 | Issue 2 | May-August 2018

 Sharma, et al.: Polyostotic fibrous dysplasia without craniofacial involvement
Craniofacial structures are involved in 10% of monostotic
type, 50% of mild polyostotic cases, and 100% of severe
polyostotic cases. Maxilla and mandible are commonly
affected with the temporal bone involved in 18% of
cases.[12,13] Rarely, FD may be associated with intramuscular
myxomas, termed Mazabraud’s syndrome. FD is a benign
lesion in which irregularly distributed spicules of bone lie
in cellular fibrous stroma.[14] The lesion is believed to be
hamartomatous developmental abnormality of the bone.[15]
In most cases, the radiographic and clinical findings are
sufficient to diagnose FD without a biopsy.[8] The density
and trabecular pattern of FD lesions is variable. Early
lesions may be more radiolucent than mature lesions and in
rare cases may appear to have granular internal septa, giving
the internal aspect a multilocular appearance. The abnormal
trabeculae are usually shorter, thinner, irregularly shaped,
and more numerous than normal trabeculae. This creates
a variable radio‑opaque pattern; it may have a granular
appearance  (“ground‑glass” appearance, resembling the
small fragments of a shattered windshield), a pattern
resembling the surface of an orange (peau d’orange), a
wispy arrangement (cotton wool), or an amorphous, dense
pattern. A distinctive characteristic is the organization of
the abnormal trabeculae into a swirling pattern similar
to a fingerprint.[8] Prapayasatok et  al.[16] reported a case
with a rare radiographic “sunray” appearance in FD. In
the presented case, the panoramic radiography revealed a
“ground‑glass” appearance of the lower long bones on the
right side without craniofacial involvement, which is an
unusual presentation in polyostotic FD. The differential
diagnosis with similar radiographic appearance such
as ameloblastoma, ameloblastic fibroma, ameloblastic
odontoma, ameloblastic fibro‑odontoma, central giant
cell granuloma, odontogenic cyst, ossifying fibroma,
osseous dysplasia, chronic sclerosing osteomyelitis, and
osteosarcoma should be considered. There are three different
patterns of polyostotic FD based on the radiographic
features, namely pagetoid (56%), sclerotic (23%), and the
radiolucent type (21%).[16] Pagetoid and lytic type involves
mostly calvarial bones, while skull base and face bones
have sclerotic lesions. CT scan is helpful in accurately
establishing the diagnosis and the extent of involvement.
In doubtful cases, histological examination is done, which
shows “Chinese letter” appearance.
If FD is asymptomatic, it can be noticed incidentally in
cone beam CT, CT scans, and radiographs. If there is no
symptom or evidence of progression during follow‑up,
surgical treatment is not considered.[16] Surgical intervention
is reserved for the prevention and treatment of fractures and
major deformities. Studies have reported the nonsurgical
treatment of FD with calcitonin, disodium etidronate,
and pamidronate. In aggressive forms of FD, increased
remodeling activity and bone resorption encouraged the
use of calcitonin to inhibit osteoclastic resorption,[17,18]
while pamidronate which is a potent inhibitor of bone
Journal of the Scientific Society | Volume 45 | Issue 2 | May-August 2018
resorption like other biophosphonates has a lasting effect
on bone turnover.[19] Pamidronate has been successful in
the treatment of Paget’s disease, malignant hypercalcemia,
lytic bone metastases, multiple myeloma, and osteoporosis.
FD treated with intravenous pamidronate showed reduced
bone turnover, decreased bone pain, and improvement in
radiological lesions.[17] Recurrence of FD is rare when the
lesion has occurred in adults, but it is seen more commonly
in growth period. Patients with craniofacial FD have the
risk of recurrence ranged from 15% to 20%. Concentration
of serum ALP may be important marker for the detection
of the recurrence of the lesion. The patients who had
FD have higher ALP; this may be a reliable marker for
estimating tumor progress, and a sudden rise in ALP was
correlated with the regrowth of FD by Park et  al.[20] Our
patient showed promising results with pamidronate therapy
without any side effect.
Declaration of patient consent
The authors certify that they have obtained all appropriate
patient consent forms. In the form the patient(s) has/have
given his/her/their consent for his/her/their images and
other clinical information to be reported in the journal. The
patients understand that their names and initials will not
be published and due efforts will be made to conceal their
identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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Journal of the Scientific Society | Volume 45 | Issue 2 | May-August 2018