Fibrous dysplasia: Difference between revisions

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==Classification==
==Classification==
*Fibrous dysplasia may be classified according to number of bony sites involved into two groups:
*Fibrous dysplasia may be classified according to number of bony sites involved into two groups:
:*One bone: monostotic fibrous dysplasia
:*One [[bone]]: monostotic fibrous dysplasia
:*Multiple bones: polyostotic fibrous dysplasia
:*Multiple [[bones]]: polyostotic fibrous dysplasia
*Other variants of FD include:<ref name="pmid29672904">{{cite journal| author=Tessaris D, Boyce AM, Zacharin M, Matarazzo P, Lala R, de Sanctis L et al.| title=Growth hormone (GH) - insulin like growth factor 1 (IGF-1) axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome. | journal=Clin Endocrinol (Oxf) | year= 2018 | volume=  | issue=  | pages=  | pmid=29672904 | doi=10.1111/cen.13722 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29672904  }}</ref>
*Other variants of FD include:<ref name="pmid29672904">{{cite journal| author=Tessaris D, Boyce AM, Zacharin M, Matarazzo P, Lala R, de Sanctis L et al.| title=Growth hormone (GH) - insulin like growth factor 1 (IGF-1) axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome. | journal=Clin Endocrinol (Oxf) | year= 2018 | volume=  | issue=  | pages=  | pmid=29672904 | doi=10.1111/cen.13722 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29672904 }}</ref><ref name="pmid29669167">{{cite journal| author=Berglund JA, Tella SH, Tuthill KF, Kim L, Guthrie LC, Paul SM et al.| title=Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated with Curve Progression and Effects of Bisphosphonates. | journal=J Bone Miner Res | year= 2018 | volume=  | issue=  | pages=  | pmid=29669167 | doi=10.1002/jbmr.3446 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29669167 }}</ref>
**[[McCune-Albright syndrome]]
**[[McCune-Albright syndrome]]
**Mazabraud syndrome<ref name="pmid29669167">{{cite journal| author=Berglund JA, Tella SH, Tuthill KF, Kim L, Guthrie LC, Paul SM et al.| title=Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated with Curve Progression and Effects of Bisphosphonates. | journal=J Bone Miner Res | year= 2018 | volume=  | issue=  | pages=  | pmid=29669167 | doi=10.1002/jbmr.3446 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29669167  }}</ref>
**Mazabraud syndrome
   
   
==Pathophysiology==
==Pathophysiology==
The pathophysiology of FD is based on mechanism mutation of Gs protein.<ref name="pmid29599748">{{cite journal| author=Utriainen P, Valta H, Björnsdottir S, Mäkitie O, Horemuzova E| title=Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort. | journal=Front Endocrinol (Lausanne) | year= 2018 | volume= 9 | issue=  | pages= 96 | pmid=29599748 | doi=10.3389/fendo.2018.00096 | pmc=5863549 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29599748  }}</ref><ref name="pmid29547687">{{cite journal| author=Rivera-Rosado E, Beaton-Comulada D, Hernandez-Ortiz E, Marrero-Ortiz PV| title=Bilateral Tibial Fibrous Dysplasia in a Pediatric Patient treated with Intramedullary Nailing. | journal=P R Health Sci J | year= 2018 | volume= 37 | issue= 1 | pages= 58-61 | pmid=29547687 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29547687  }}</ref><ref name="pmid29544460">{{cite journal| author=Innamorati G, Wilkie TM, Kantheti HS, Valenti MT, Dalle Carbonare L, Giacomello L et al.| title=The curious case of Gαs gain-of-function in neoplasia. | journal=BMC Cancer | year= 2018 | volume= 18 | issue= 1 | pages= 293 | pmid=29544460 | doi=10.1186/s12885-018-4133-z | pmc=5856294 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29544460  }}</ref><ref name="pmid29517538">{{cite journal| author=Fournel L, Rapicetta C, Fraternali A, Bellafiore S, Paci M, Lococo F| title=Fibrous Dysplasia of the Rib Mimicking a Malignant Bone Tumor at SPECT/CT with 99mTc-MDP. | journal=Clin Nucl Med | year= 2018 | volume= 43 | issue= 5 | pages= 346-348 | pmid=29517538 | doi=10.1097/RLU.0000000000002015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29517538  }}</ref>
The pathophysiology of fibrous dysplasia is based on mechanism of [[G protein]] [[mutation]].<ref name="pmid29599748">{{cite journal| author=Utriainen P, Valta H, Björnsdottir S, Mäkitie O, Horemuzova E| title=Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort. | journal=Front Endocrinol (Lausanne) | year= 2018 | volume= 9 | issue=  | pages= 96 | pmid=29599748 | doi=10.3389/fendo.2018.00096 | pmc=5863549 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29599748  }}</ref><ref name="pmid29547687">{{cite journal| author=Rivera-Rosado E, Beaton-Comulada D, Hernandez-Ortiz E, Marrero-Ortiz PV| title=Bilateral Tibial Fibrous Dysplasia in a Pediatric Patient treated with Intramedullary Nailing. | journal=P R Health Sci J | year= 2018 | volume= 37 | issue= 1 | pages= 58-61 | pmid=29547687 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29547687  }}</ref><ref name="pmid29544460">{{cite journal| author=Innamorati G, Wilkie TM, Kantheti HS, Valenti MT, Dalle Carbonare L, Giacomello L et al.| title=The curious case of Gαs gain-of-function in neoplasia. | journal=BMC Cancer | year= 2018 | volume= 18 | issue= 1 | pages= 293 | pmid=29544460 | doi=10.1186/s12885-018-4133-z | pmc=5856294 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29544460  }}</ref><ref name="pmid29517538">{{cite journal| author=Fournel L, Rapicetta C, Fraternali A, Bellafiore S, Paci M, Lococo F| title=Fibrous Dysplasia of the Rib Mimicking a Malignant Bone Tumor at SPECT/CT with 99mTc-MDP. | journal=Clin Nucl Med | year= 2018 | volume= 43 | issue= 5 | pages= 346-348 | pmid=29517538 | doi=10.1097/RLU.0000000000002015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29517538  }}</ref>


'''Genetics'''
'''Genetics'''
*The somatic mutation in [[GNAS1|GNAS1 gene]] located on the long arm (q) of [[chromosome]] 20 (20q13.2)  has been associated with the development of FD, involving the gain-of-function mutation pathway.
*The [[Mutation|somatic mutation]] in [[GNAS1|GNAS1 gene]] located on the long arm (q) of [[Chromosome 20 (human)|chromosome 20]] (20q13.2) has been associated with the development of FD, involving the gain-of-function mutation pathway.
*As it is somatic mutation that is why it is not heritable, post fertilization mutation occurring due to unknown reason.
*[[Mutation]] of [[GNAS1|GNAS1 gene]] is a [[Mutation|somatic mutation]] and it is not [[Heritability|heritable]].
*''Mutation of [[GNAS1|GNAS]]1'' gene results in the overproduction of this G-protein, which in turn increases cyclic adenosine monophosphate (cAMP).
*The exact reason for post fertilization [[mutation]] remains unknown.
*Cyclic adenosine monophosphate (cAMP) is important regulatory molecule of differentiation modulating [[Osteoblast|osteoblasts]] and [[Osteoclast|osteoclasts]] while [[ossification]] and remodeling of bones.
*[[Mutation]] of [[GNAS1|GNAS1 gene]] results in the overproduction of this [[G protein|G-protein]], which in turn increases [[cyclic adenosine monophosphate]] ([[Cyclic adenosine monophosphate|cAMP]]).
*Improper [[differentiation]] of [[Osteoblast|osteoblasts]] due to mutation of the ''[[GNAS1|GNAS]]1'' gene is the cause of FD.
*[[Cyclic adenosine monophosphate]] ([[Cyclic adenosine monophosphate|cAMP]]) is important regulatory molecule of differentiation modulating [[Osteoblast|osteoblasts]] and [[Osteoclast|osteoclasts]] while [[ossification]] and remodeling of [[Bone (disambiguation)|bones]].
*[[Osteoclast|Osteoclasts]] removes ossified bones and creates space for immature [[Osteoblast|osteoblasts]] to produce fibrous tissue and occupy space which may entrap nerves causing pain or [[Neurology|neurological]] deficit depending on the site involved.
*Improper [[differentiation]] of [[Osteoblast|osteoblasts]] due to [[mutation]] of the [[GNAS1|GNAS1 gene]] considered as a cause of FD.
*'''On gross pathology,''' Well circumscribed, [[intramedullary]],Tan-white-yellow, gritty, Large lesions distort bone, Cortical bone often thin and expanded are characteristic findings of FD.
*[[Osteoclast|Osteoclasts]] removes ossified bones and creates space for immature [[Osteoblast|osteoblasts]] to produce [[Fibrous connective tissue|fibrous tissue]] and occupy space which may entrap [[Nerve|nerves]] causing [[pain]] or [[Neurology|neurological]] deficit depending on the site involved.
*'''On microscopic histopathological analysis''' :
'''Gross pathology'''  
**Curvilinear [[Trabecula|trabeculae]] (Chinese letters) of metaplastic woven bone (never matures) in hypocellular,
*Following are characteristic gross pathology findings of fibrous dysplasia:
**[[Stroma|fibroblastic stroma]]
**Well circumscribed, [[intramedullary]] lesion
**No osteoblastic rimming (due to [[maturation]] arrest), 20% of cases have cartilaginous nodules (particularly in femoral neck region)
**Tan-white-yellow, gritty, large lesions that distort [[bone]]
**Also myxoid areas, rapidly growing secondary aneurysmal bone [[Cyst|cysts]], [[Bleeding|hemorrhage]], foamy [[Macrophage|macrophages]], calcified spherules (similar to cementifying fibromas), cellular areas, focal [[hyaline cartilage]] or [[Cyst|cystic]] areas
**Thin and expanded [[cortical bone]]
**Usually abrupt transition of normal to abnormal bone
'''Microscopic histopathological analysis'''
**No/rare [[Mitosis|mitotic figures]], no [[atypia]] (rarely is [[Degenerative disease|degenerative]])
*Following are characteristic microscopic histopathological findings of fibrous dysplasia:
**Overall resembles [[endochondral ossification]] in skull are characteristic findings of FD.
**Curvilinear [[Trabecula|trabeculae]] (Chinese letters) of metaplastic woven [[bone]]
**Hypocellular and [[Stroma|fibroblastic stroma]]  
==Clinical Features==
**No osteoblastic rimming (due to [[maturation]] arrest)
There are four varriets of FD and the clinical features are pertaining to that specific feature.
**[[Cartilage|Cartilaginous]] nodules (in 20% of cases particularly in femoral neck region)
* Monoostiotic
**Myxoid areas consist of rapidly growing secondary aneurysmal bone [[Cyst|cysts]], [[Bleeding|hemorrhage]], foamy [[Macrophage|macrophages]], calcified spherules, and focal [[hyaline cartilage]]
* Polyostiotic
**Abrupt transition of normal to abnormal [[bone]]
* [[McCune-Albright syndrome]]
**No/rare [[Mitosis|mitotic figures]]
* Mazabraud syndrome
**No [[atypia]] (rarely is [[Degenerative disease|degenerative]])
**Resembling [[endochondral ossification]] in [[skull]]
 
== Causes ==


==Differentiating Fibrous dyspepsia from other Diseases==
==Differentiating Fibrous dyspepsia from other Diseases==
*Fibrous dyspepsia must be differentiated from other diseases that cause bone pain, deformity, and extra-skeletal involvement, such as:
*Fibrous dysplasia must be differentiated from other diseases that cause [[bone pain]], [[deformity]], and extra-skeletal involvement, such as:
{| class="wikitable"
{|
!Disease
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease
!Bone involvement
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Bone involvement
!Bone pain
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Bone pain
!Fever
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Fever
!Fractures
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Fractures
!Mechanisum
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Mechanism
!ALK levels
! align="center" style="background:#4479BA; color: #FFFFFF;" + |ALK level
!Diagnosis
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Diagnosis
|-
|-
|ossifying sarcoma
! align="center" style="background:#DCDCDC;" + |Ossifying sarcoma
|single
| align="center" style="background:#F5F5F5;" + |Single
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|no
| align="center" style="background:#F5F5F5;" + |No
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|neoplasm
| align="center" style="background:#F5F5F5;" + |[[Neoplasm]]
|normal
| align="center" style="background:#F5F5F5;" + |Normal
|radiology and biopsy
| align="center" style="background:#F5F5F5;" + |[[Radiology]] and [[biopsy]]
|-
|-
|[[paget's disease]]
! align="center" style="background:#DCDCDC;" + |[[Paget's disease]]
|multiple
| align="center" style="background:#F5F5F5;" + |Multiple
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|no
| align="center" style="background:#F5F5F5;" + |No
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|malfunction of  
| align="center" style="background:#F5F5F5;" + |Malfunction of [[Osteoblast|osteoblasts]]
osteoblast
| align="center" style="background:#F5F5F5;" + |High
|high
| align="center" style="background:#F5F5F5;" + |[[Biopsy]]
|biopsy
|-
|-
|[[osteosarcoma]]
! align="center" style="background:#DCDCDC;" + |[[Osteosarcoma]]
|single
| align="center" style="background:#F5F5F5;" + |Single
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|no
| align="center" style="background:#F5F5F5;" + |No
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|neoplasm
| align="center" style="background:#F5F5F5;" + |[[Neoplasm]]
|normal
| align="center" style="background:#F5F5F5;" + |Normal
|radiology and biopsy
| align="center" style="background:#F5F5F5;" + |[[Radiology]] and [[biopsy]]
|-
|-
|[[cherubism]]
! align="center" style="background:#DCDCDC;" + |[[Cherubism]]
|single
| align="center" style="background:#F5F5F5;" + |Single
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|no
| align="center" style="background:#F5F5F5;" + |No
|no
| align="center" style="background:#F5F5F5;" + |No
|malfunction of  
| align="center" style="background:#F5F5F5;" + |Malfunction of [[Osteoblast|osteoblasts]]
osteoblas
| align="center" style="background:#F5F5F5;" + |High
|high
| align="center" style="background:#F5F5F5;" + |[[Radiology]] and [[biopsy]]
|radiology and biopsy
|-
|-
|[[Hyperparathyroidism|hyperparathyroidisum]]
! align="center" style="background:#DCDCDC;" + |[[Hyperparathyroidism]]
|multiple
| align="center" style="background:#F5F5F5;" + |Multiple
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|high PTH
| align="center" style="background:#F5F5F5;" + |High [[PTH]]
|normal
| align="center" style="background:#F5F5F5;" + |Normal
|hormone workup
| align="center" style="background:#F5F5F5;" + |[[Hormone]] level
|-
|-
|[[Endocytosis|solitary endocytosis]]
! align="center" style="background:#DCDCDC;" + |Solitary endocytosis
|single
| align="center" style="background:#F5F5F5;" + |Single
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|no
| align="center" style="background:#F5F5F5;" + |No
|no
| align="center" style="background:#F5F5F5;" + |No
|neoplasm
| align="center" style="background:#F5F5F5;" + |[[Neoplasm]]
|normal
| align="center" style="background:#F5F5F5;" + |Normal
|radiology and biopsy
| align="center" style="background:#F5F5F5;" + |[[Radiology]] and [[biopsy]]
|-
|-
|[[osteoblastoma]]
! align="center" style="background:#DCDCDC;" + |[[Osteoblastoma]]
|single
| align="center" style="background:#F5F5F5;" + |Single
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|no
| align="center" style="background:#F5F5F5;" + |No
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|neoplasm
| align="center" style="background:#F5F5F5;" + |[[Neoplasm]]
|high
| align="center" style="background:#F5F5F5;" + |High
|radiology and biopsy
| align="center" style="background:#F5F5F5;" + |[[Radiology]] and [[biopsy]]
|-
|-
|[[osteomyelitis]]
! align="center" style="background:#DCDCDC;" + |[[Osteomyelitis]]
|single
| align="center" style="background:#F5F5F5;" + |Single
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|no
| align="center" style="background:#F5F5F5;" + |No
|infection
| align="center" style="background:#F5F5F5;" + |[[Infection]]
|normal
| align="center" style="background:#F5F5F5;" + |Normal
|radiology and biopsy
| align="center" style="background:#F5F5F5;" + |[[Radiology]] and [[biopsy]]
|-
|-
|[[brodie's abscess]]
! align="center" style="background:#DCDCDC;" + |[[Brodie's abscess]]
|single
| align="center" style="background:#F5F5F5;" + |Single
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|yes
| align="center" style="background:#F5F5F5;" + |Yes
|no
| align="center" style="background:#F5F5F5;" + |No
|infection
| align="center" style="background:#F5F5F5;" + |[[Infection]]
|normal
| align="center" style="background:#F5F5F5;" + |Normal
|radiology and biopsy
| align="center" style="background:#F5F5F5;" + |[[Radiology]] and [[biopsy]]
|}
|}


==Epidemiology and Demographics==
==Epidemiology and Demographics==
* The prevalence and incidence of FD is not known exactly.<ref name="pmid28965204" /><ref name="pmid28839487" />
* The prevalence and incidence of fibrous dysplasia is not known exactly.<ref name="pmid28965204" /><ref name="pmid28839487" />
 
===Age===
*FD is more commonly found in age group from 3 -15 years of life.
*FD is more commonly found in age group from 3 -15 years of life.
*Polyostiotic does not become symptomatic before age 10 years.
*Polyostotic does not become symptomatic before age 10 years.
*Monostiotic is asymptomatic until age of 20-30 years of life.
*Monostotic is asymptomatic until age of 20-30 years of life.
 
===Gender===
*FD affects men and women equally.
*FD affects men and women equally.
 
===Race===
*There is no racial predilection for FD.
*There is no racial predilection for FD.
   
   
==Risk Factors==
==Risk Factors==
*Common risk factor in the development of PD is gain in function mutation.
*Common risk factor in the development of fibrous dysplasia is [[Mutation|gain-of-function mutation]].
 
== Screening ==
 
== Natural History, Complications and Prognosis==
== Natural History, Complications and Prognosis==
*The majority of patients with FD remain asymptomatic for first decade of life.  
*The majority of patients with FD remain asymptomatic for the first decade of life.  
*Early clinical features include bone pain, bony deformity, fever, pathological fractures, and skin/endocrine/malignancies depending on the variant.
*Early clinical features include [[bone pain]], bony [[deformity]], [[fever]], and pathological [[Bone fracture|fractures]].
*Common complications of FD include neurological deficit, endocrine abnormality, and in rare cases soft tissue tumors.
*Patients with fibrous dysplasia might develop skin/endocrine/malignancies depending on the variant.
*Prognosis is generally good, and the patients with polyostetic form may have frequent fractures.
*Common complications of FD include neurological deficit, [[Endocrine system|endocrine]] abnormality, and in rare cases soft tissue [[Tumor|tumors]].
*Prognosis is generally good, and the patients with polyostotic form may have frequent [[Bone fracture|fractures]].
   
   
== Diagnosis ==
== Diagnosis ==
===Diagnostic Criteria===
===Diagnostic Study of Choice===
*The diagnosis of FD is made when on the basis of history, radiology findings and [[genetic testing]] to verify presence og [[Mutation|GNAS mutation]].<ref name="pmid29485574">{{cite journal| author=Ogul H, Keskin E| title=Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion. | journal=J Craniofac Surg | year= 2018 | volume=  | issue=  | pages=  | pmid=29485574 | doi=10.1097/SCS.0000000000004453 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29485574  }}</ref><ref name="pmid29471062">{{cite journal| author=Karaca A, Malladi VR, Zhu Y, Tafaj O, Paltrinieri E, Wu JY et al.| title=Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth. | journal=Bone | year= 2018 | volume= 110 | issue=  | pages= 230-237 | pmid=29471062 | doi=10.1016/j.bone.2018.02.016 | pmc=5878747 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29471062  }}</ref><ref name="pmid29434178">{{cite journal| author=Akashi M, Matsuo K, Shigeoka M, Kakei Y, Hasegawa T, Tachibana A et al.| title=A Case Series of Fibro-Osseous Lesions of the Jaws. | journal=Kobe J Med Sci | year= 2017 | volume= 63 | issue= 3 | pages= E73-E79 | pmid=29434178 | doi= | pmc=5826023 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29434178  }}</ref><ref name="pmid294880042">{{cite journal| author=Ostertag H, Glombitza S| title=[The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions]. | journal=Pathologe | year= 2018 | volume= 39 | issue= 2 | pages= 146-153 | pmid=29488004 | doi=10.1007/s00292-018-0417-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29488004  }}</ref><ref name="pmid29335001">{{cite journal| author=Mierzwiński J, Kosowska J, Tyra J, Haber K, Drela M, Paczkowski D et al.| title=Different clinical presentation and management of temporal bone fibrous dysplasia in children. | journal=World J Surg Oncol | year= 2018 | volume= 16 | issue= 1 | pages= 5 | pmid=29335001 | doi=10.1186/s12957-017-1302-5 | pmc=5769533 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29335001  }}</ref><ref name="pmid28965204">{{cite journal| author=Yepes JF| title=Dental Manifestations of Pediatric Bone Disorders. | journal=Curr Osteoporos Rep | year= 2017 | volume= 15 | issue= 6 | pages= 588-592 | pmid=28965204 | doi=10.1007/s11914-017-0409-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28965204  }}</ref><ref name="pmid28839487">{{cite journal| author=Gupta D, Garg P, Mittal A| title=Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update. | journal=Open Dent J | year= 2017 | volume= 11 | issue=  | pages= 384-403 | pmid=28839487 | doi=10.2174/1874210601711010384 | pmc=5543691 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28839487  }}</ref>
*The diagnosis of FD is made on the basis of clinical manifestations, [[radiology]] findings, and [[genetic testing]] to verify presence of [[GNAS1|GNAS]] mutation.<ref name="pmid29485574">{{cite journal| author=Ogul H, Keskin E| title=Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion. | journal=J Craniofac Surg | year= 2018 | volume=  | issue=  | pages=  | pmid=29485574 | doi=10.1097/SCS.0000000000004453 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29485574  }}</ref><ref name="pmid29471062">{{cite journal| author=Karaca A, Malladi VR, Zhu Y, Tafaj O, Paltrinieri E, Wu JY et al.| title=Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth. | journal=Bone | year= 2018 | volume= 110 | issue=  | pages= 230-237 | pmid=29471062 | doi=10.1016/j.bone.2018.02.016 | pmc=5878747 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29471062  }}</ref><ref name="pmid29434178">{{cite journal| author=Akashi M, Matsuo K, Shigeoka M, Kakei Y, Hasegawa T, Tachibana A et al.| title=A Case Series of Fibro-Osseous Lesions of the Jaws. | journal=Kobe J Med Sci | year= 2017 | volume= 63 | issue= 3 | pages= E73-E79 | pmid=29434178 | doi= | pmc=5826023 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29434178  }}</ref><ref name="pmid294880042">{{cite journal| author=Ostertag H, Glombitza S| title=[The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions]. | journal=Pathologe | year= 2018 | volume= 39 | issue= 2 | pages= 146-153 | pmid=29488004 | doi=10.1007/s00292-018-0417-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29488004  }}</ref><ref name="pmid29335001">{{cite journal| author=Mierzwiński J, Kosowska J, Tyra J, Haber K, Drela M, Paczkowski D et al.| title=Different clinical presentation and management of temporal bone fibrous dysplasia in children. | journal=World J Surg Oncol | year= 2018 | volume= 16 | issue= 1 | pages= 5 | pmid=29335001 | doi=10.1186/s12957-017-1302-5 | pmc=5769533 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29335001  }}</ref><ref name="pmid28965204">{{cite journal| author=Yepes JF| title=Dental Manifestations of Pediatric Bone Disorders. | journal=Curr Osteoporos Rep | year= 2017 | volume= 15 | issue= 6 | pages= 588-592 | pmid=28965204 | doi=10.1007/s11914-017-0409-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28965204  }}</ref><ref name="pmid28839487">{{cite journal| author=Gupta D, Garg P, Mittal A| title=Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update. | journal=Open Dent J | year= 2017 | volume= 11 | issue=  | pages= 384-403 | pmid=28839487 | doi=10.2174/1874210601711010384 | pmc=5543691 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28839487  }}</ref>
=== Symptoms ===
=== History and Symptoms ===
*FD is usually asymptomatic.
*FD is usually asymptomatic.
*Symptoms of FD may include Early clinical features include bone pain, bony deformity, fever, pathological fractures, and skin/endocrine/malignancies depending on the variant. Common complications of FD include neurological deficit, endocrine abnormality, and in rare cases soft tissue tumors
*Symptoms of FD may include:
**[[Fever]]
**[[Bone pain]]
**Bony [[deformity]]
**Pathological [[Bone fracture|fractures]]
=== Physical Examination ===
=== Physical Examination ===
*Patients with FD usually appear normal unless the is any bony deformity or skin is involved.
*Patients with FD usually appear normal unless there is any bony [[deformity]] or [[skin]] involvement
*Physical examination may be remarkable according to the classification of disease:
*Physical examination may be remarkable according to the classification of disease:
:Monostetic
:Monostotic
:* Single bone involved
:* Single [[bone]] involved.
:* Mostly affects rib, femur, and tibia.
:* Mostly affects [[rib]], [[femur]], and [[tibia]].
:* Carinofasical bone and [[humerus]] bone
:* Craniofacial bone and [[humerus]] bone
:* Fracture at age of 10 years
:* [[Bone fracture|Fracture]] at age of 10 years
:* Bone defrmity less sever
:* Less severe bone [[deformity]]
:* painless swelling of jaw
:* Painless [[Edema|swelling]] of [[jaw]]
:* swelling involve [[buccal]] and [[Labial|labial plate]]
:* Swelling of [[buccal]] and [[Labial|labial plate]]
:* Protuberance of inferior border of mandible
:* Protuberance of inferior border of [[mandible]]
:Polyostetic
:Polyostotic
:* Multiple bones involved
:* Multiple bones involved
:* Involve [[rib]], [[femur]], [[clavicle]], lumber spine and [[tibia]].
:* Involve [[rib]], [[femur]], [[clavicle]], [[lumbar spine]], and [[tibia]].
:* Asymmetrical involvement  
:* Asymmetrical involvement  
:* Mainly maalignment of bones
:* Mainly misalignment of [[Bone (disambiguation)|bones]]
:* Tenderness over involved bone
:* [[Tenderness]] over involved bone
:* Bowing of weight bearing bone and increased curvature of femur and tibia
:* Bowing of weight bearing [[bone]] and increasing curvature of [[femur]] and [[tibia]]
:Cranofasical
:Craniofacial
:* Involvement of maxilofascial bones
:* Involvement of maxillofacial bones
:* Maladjustment
:* Maladjustment
:* Tappering
:* Tappering
Line 198: Line 203:
:* Floor of [[Orbit (anatomy)|orbit]] may extend to skull
:* Floor of [[Orbit (anatomy)|orbit]] may extend to skull
:* No extracranial involvement  
:* No extracranial involvement  
:* [[Hypertelorism]], facial asymmetry, visual impairment, expothalmus and blindness
:* [[Hypertelorism]], facial asymmetry, visual impairment, exophthalmos and blindness
:* [[Vestibular system|Vestibular dysfuntion]], hearing loss and tinnitus.
:* [[Vestibular system|Vestibular dysfuntion]], hearing loss and tinnitus.
:[[McCune-Albright syndrome]]
:[[McCune-Albright syndrome]]
:* Involves all the bone of body
:* May involve all the [[Bone (disambiguation)|bones]]
:* [[Café au lait spot|Cafe au lait spots]]
:* [[Café au lait spot|Cafe au lait spots]]
:* Endocrine abnormality of [[parathyroid hormone]], [[gonadotropins]] Mazabraud syndrome
:* Endocrine abnormality of [[parathyroid hormone]], [[gonadotropins]] Mazabraud syndrome
:* Involve variable number of bones
:* Involve variable number of bones
:
=== Laboratory Findings ===
=== Laboratory Findings ===
*There are no specific laboratory findings associated with FD however we may find normal [[Parathyroid hormone|PTH]], [[Calcium|Ca levels]], and increased levels of [[Alkaline phosphatase|ALK phosphate]] due to increased bone turn over and increased [[Basal metabolic rate|BMR]].
*There are no specific laboratory findings associated with FD. However, we may find normal [[Parathyroid hormone|PTH]], Ca levels, and increased level of [[alkaline phosphatase]] due to increased [[bone turnover]] and increased [[basal metabolic rate]].
===Imaging Findings===
===Electrocardiogram===
===X-ray===
*Radiology is the imaging modality of choice for FD.
*Radiology is the imaging modality of choice for FD.
*On Xray, FD is characterized by  
*On [[X-rays|x-ray]], FD is characterized by:
**Network of fine bone [[Trabecula|trabeculae]]
**Network of fine bone [[Trabecula|trabeculae]]
**Increased trabeculation
**Increased trabeculation
**Opaque trabeculation forming [[Ground glass opacification on CT|ground glass appearance]]
**Opaque trabeculation forming [[Ground glass opacification on CT|ground glass appearance]]
**Cortical thinning
**Cortical thinning
**Root of teeth separated
**Separated root of teeth  
 
=== Echocardiography or Ultrasound ===
 
=== CT scan ===
 
=== MRI ===
 
=== Other Imaging Findings ===
 
=== Other Diagnostic Studies ===
=== Other Diagnostic Studies ===
*Work up of FD may also be involve  using MRI and CT.
*[[Magnetic resonance imaging|MRI]] and [[Computed tomography|CT scan]] may be helpful in diagnosis of fibrous dysplasia.
*Bone biopsy will revel the histological findings of as:
*Bone [[biopsy]] will reveal the histological findings such as:
**[[Trabeculae|Curvilinear trabeculae]] (Chinese letters) of [[Metaplasticity|metaplastic]] woven bone (never matures) in hypocellular,
**Curvilinear [[Trabecula|trabeculae]] (Chinese letters) of metaplastic woven [[bone]]  
**fibroblastic stroma
**Hypocellular and [[Stroma|fibroblastic stroma]]
**No osteoblastic rimming (due to maturation arrest), 20% of cases have cartilaginous nodules (particularly in femoral neck region)
**No osteoblastic rimming (due to [[maturation]] arrest)
**Also myxoid areas, rapidly growing secondary aneurysmal bone cysts, hemorrhage, foamy macrophages, calcified spherules (similar to cementifying fibromas), cellular areas, focal hyaline cartilage or cystic areas
**[[Cartilage|Cartilaginous]] nodules (in 20% of cases particularly in femoral neck region)
**Myxoid areas consist of rapidly growing secondary aneurysmal bone [[Cyst|cysts]], [[Bleeding|hemorrhage]], foamy [[Macrophage|macrophages]], calcified spherules, and focal [[hyaline cartilage]]
  {{Family tree/start}}
  {{Family tree/start}}
{{Family tree | A01 |-|v|-| A02 | | | |A01=Incidental finding|A02=Dull, aching pain and subsequent radiographs}}
{{Family tree | A01 |-|v|-| A02 | | | |A01=Incidental finding|A02=Dull, aching pain and subsequent radiographs}}
Line 243: Line 257:


=== Medical Therapy ===
=== Medical Therapy ===
*The mainstay of therapy for FD is [[Bisphosphonate|Bisphosphate]] which help in improving pain, slow down process of bone turnover and also lower the fracture risk factor.
*The mainstay of therapy for FD is [[Bisphosphonate|bisphosphonates]], which help in improving [[pain]], slow down process of [[bone turnover]], and also lower the [[Bone fracture|fracture]] risk factor.
*[[Bisphosphonate|Bisphosphate]] acts by inhabiting  [[Osteoclast|osteoclasts]].
*[[Bisphosphonate|Bisphosphonates]] acts by inhibiting [[Osteoclast|osteoclasts]].
*In the absence of a [[Bone fracture|fracture]] or symptoms, the follow-up for a child with FD consists of twice yearly clinical evaluations with special attention to limited range of motion, obvious angular deformity and limb length discrepancy.
*In the absence of a [[Bone fracture|fracture]] or symptoms, the follow-up for a child with FD consists of twice yearly clinical evaluations with special attention to limited range of motion, obvious angular deformity, and limb length discrepancy.
   
   
=== Surgery ===
=== Surgery ===
*Conventional surgical procedures can only be performed for patients with symptomatic FD patients in conjugation of over all evaluation of disease and the age of child.
*Conventional surgical procedures can only be performed for patients with symptomatic FD patients in conjugation of over all evaluation of disease and the age of child.
*Adult monosteotic lesion may be observed with subsequent radiography if it is not symptomatic. surgical removal and grafting the defect is considered for patients who have symptoms or excessively growing deformity or when disease produces deficit.
*Adult monostotic lesion may be observed with subsequent radiography if it is not symptomatic. surgical removal and grafting the defect is considered for patients who have symptoms or excessively growing deformity or when disease produces deficit.
*Child age group may have skin lesions and endocrinopathies which needs prompt attention and surgery will be delayed until bones are mature and in case of [[Neurology|neurological]] defect or significant deformity surgery is advised immediately.
*Child age group may have skin lesions and endocrinopathies which needs prompt attention and surgery will be delayed until bones are mature and in case of [[Neurology|neurological]] defect or significant deformity surgery is advised immediately.
=== Primary Prevention ===
=== Secondary Prevention ===
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 21:56, 25 April 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sunny Kumar MD [2]

Overview

Fibrous dysplasia [FD] is a disorder of bones which may occur with or without endocrinological and skin disorders. It may cause bony pain, deformity, fracture and / or entrapment of nerves, It is basically the acquired mis-sense mutation of gene coding for the α-subunit of the stimulatory G-protein, Gs, in the guanine nucleotide binding, alpha stimulating (GNAS) complex locus in chromosome 20q13. It leads to immature or poor differentiation of body tissue at the time of ossification and replacement of bone by fibrous tissue. Diagnosis depends on radiology and biopsic specimen.

Historical Perspective

  • Fibrous dysplasia was first observed in bone radiography by Von Recklinghausen in 1891.[1]
  • It was then entitled as separate entity by american pathologist Dr. Louis Lichtenstein in 1938 as fibrous dysplasia polyostotic.
  • In 1942, Dr Lichtenstein and Dr. Jaffe together labeled syndrome named McCune-Albright syndrome (fibrous dysplasia-café au lait spots-endocrine dysfunction) or Mazabraud syndrome (fibrous dysplasia-myxomas). 

Classification

  • Fibrous dysplasia may be classified according to number of bony sites involved into two groups:
  • One bone: monostotic fibrous dysplasia
  • Multiple bones: polyostotic fibrous dysplasia

Pathophysiology

The pathophysiology of fibrous dysplasia is based on mechanism of G protein mutation.[4][5][6][7]

Genetics

Gross pathology

  • Following are characteristic gross pathology findings of fibrous dysplasia:

Microscopic histopathological analysis

Causes

Differentiating Fibrous dyspepsia from other Diseases

  • Fibrous dysplasia must be differentiated from other diseases that cause bone pain, deformity, and extra-skeletal involvement, such as:
Disease Bone involvement Bone pain Fever Fractures Mechanism ALK level Diagnosis
Ossifying sarcoma Single Yes No Yes Neoplasm Normal Radiology and biopsy
Paget's disease Multiple Yes No Yes Malfunction of osteoblasts High Biopsy
Osteosarcoma Single Yes No Yes Neoplasm Normal Radiology and biopsy
Cherubism Single Yes No No Malfunction of osteoblasts High Radiology and biopsy
Hyperparathyroidism Multiple Yes Yes Yes High PTH Normal Hormone level
Solitary endocytosis Single Yes No No Neoplasm Normal Radiology and biopsy
Osteoblastoma Single Yes No Yes Neoplasm High Radiology and biopsy
Osteomyelitis Single Yes Yes No Infection Normal Radiology and biopsy
Brodie's abscess Single Yes Yes No Infection Normal Radiology and biopsy

Epidemiology and Demographics

  • The prevalence and incidence of fibrous dysplasia is not known exactly.[8][9]
  • FD is more commonly found in age group from 3 -15 years of life.
  • Polyostotic does not become symptomatic before age 10 years.
  • Monostotic is asymptomatic until age of 20-30 years of life.
  • FD affects men and women equally.
  • There is no racial predilection for FD.

Risk Factors

Screening

Natural History, Complications and Prognosis

  • The majority of patients with FD remain asymptomatic for the first decade of life.
  • Early clinical features include bone pain, bony deformity, fever, and pathological fractures.
  • Patients with fibrous dysplasia might develop skin/endocrine/malignancies depending on the variant.
  • Common complications of FD include neurological deficit, endocrine abnormality, and in rare cases soft tissue tumors.
  • Prognosis is generally good, and the patients with polyostotic form may have frequent fractures.

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

  • Patients with FD usually appear normal unless there is any bony deformity or skin involvement
  • Physical examination may be remarkable according to the classification of disease:
Monostotic
Polyostotic
Craniofacial
McCune-Albright syndrome

Laboratory Findings

Electrocardiogram

X-ray

  • Radiology is the imaging modality of choice for FD.
  • On x-ray, FD is characterized by:

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Incidental finding
 
 
 
Dull, aching pain and subsequent radiographs
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Full-body 99Tc-methylene diphosphonate bone scan
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Typical thinning of the cortex without periosteal reaction with a matrix appearance
Ground glass
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
If Yes
no further studies
 
 
 
 
If no
Bone Biopsy
 
 
 
 
 
 

Treatment

Treatment of FD is mostly symptomatic and it can be either medical or surgical depending on severity and presentation of disease.[15][16][17][18][19]

Medical Therapy

  • The mainstay of therapy for FD is bisphosphonates, which help in improving pain, slow down process of bone turnover, and also lower the fracture risk factor.
  • Bisphosphonates acts by inhibiting osteoclasts.
  • In the absence of a fracture or symptoms, the follow-up for a child with FD consists of twice yearly clinical evaluations with special attention to limited range of motion, obvious angular deformity, and limb length discrepancy.

Surgery

  • Conventional surgical procedures can only be performed for patients with symptomatic FD patients in conjugation of over all evaluation of disease and the age of child.
  • Adult monostotic lesion may be observed with subsequent radiography if it is not symptomatic. surgical removal and grafting the defect is considered for patients who have symptoms or excessively growing deformity or when disease produces deficit.
  • Child age group may have skin lesions and endocrinopathies which needs prompt attention and surgery will be delayed until bones are mature and in case of neurological defect or significant deformity surgery is advised immediately.

Primary Prevention

Secondary Prevention

References

  1. Cicek AF, Kilinc M, Safali M, Gunhan O (2018). "Lamellation in fibrous dysplasia: A clinicopathologic study". Histol Histopathol: 11991. doi:10.14670/HH-11-991. PMID 29675824.
  2. Tessaris D, Boyce AM, Zacharin M, Matarazzo P, Lala R, de Sanctis L; et al. (2018). "Growth hormone (GH) - insulin like growth factor 1 (IGF-1) axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome". Clin Endocrinol (Oxf). doi:10.1111/cen.13722. PMID 29672904.
  3. Berglund JA, Tella SH, Tuthill KF, Kim L, Guthrie LC, Paul SM; et al. (2018). "Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated with Curve Progression and Effects of Bisphosphonates". J Bone Miner Res. doi:10.1002/jbmr.3446. PMID 29669167.
  4. Utriainen P, Valta H, Björnsdottir S, Mäkitie O, Horemuzova E (2018). "Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort". Front Endocrinol (Lausanne). 9: 96. doi:10.3389/fendo.2018.00096. PMC 5863549. PMID 29599748.
  5. Rivera-Rosado E, Beaton-Comulada D, Hernandez-Ortiz E, Marrero-Ortiz PV (2018). "Bilateral Tibial Fibrous Dysplasia in a Pediatric Patient treated with Intramedullary Nailing". P R Health Sci J. 37 (1): 58–61. PMID 29547687.
  6. Innamorati G, Wilkie TM, Kantheti HS, Valenti MT, Dalle Carbonare L, Giacomello L; et al. (2018). "The curious case of Gαs gain-of-function in neoplasia". BMC Cancer. 18 (1): 293. doi:10.1186/s12885-018-4133-z. PMC 5856294. PMID 29544460.
  7. Fournel L, Rapicetta C, Fraternali A, Bellafiore S, Paci M, Lococo F (2018). "Fibrous Dysplasia of the Rib Mimicking a Malignant Bone Tumor at SPECT/CT with 99mTc-MDP". Clin Nucl Med. 43 (5): 346–348. doi:10.1097/RLU.0000000000002015. PMID 29517538.
  8. 8.0 8.1 Yepes JF (2017). "Dental Manifestations of Pediatric Bone Disorders". Curr Osteoporos Rep. 15 (6): 588–592. doi:10.1007/s11914-017-0409-5. PMID 28965204.
  9. 9.0 9.1 Gupta D, Garg P, Mittal A (2017). "Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update". Open Dent J. 11: 384–403. doi:10.2174/1874210601711010384. PMC 5543691. PMID 28839487.
  10. Ogul H, Keskin E (2018). "Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion". J Craniofac Surg. doi:10.1097/SCS.0000000000004453. PMID 29485574.
  11. Karaca A, Malladi VR, Zhu Y, Tafaj O, Paltrinieri E, Wu JY; et al. (2018). "Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth". Bone. 110: 230–237. doi:10.1016/j.bone.2018.02.016. PMC 5878747. PMID 29471062.
  12. Akashi M, Matsuo K, Shigeoka M, Kakei Y, Hasegawa T, Tachibana A; et al. (2017). "A Case Series of Fibro-Osseous Lesions of the Jaws". Kobe J Med Sci. 63 (3): E73–E79. PMC 5826023. PMID 29434178.
  13. Ostertag H, Glombitza S (2018). "[The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions]". Pathologe. 39 (2): 146–153. doi:10.1007/s00292-018-0417-y. PMID 29488004.
  14. Mierzwiński J, Kosowska J, Tyra J, Haber K, Drela M, Paczkowski D; et al. (2018). "Different clinical presentation and management of temporal bone fibrous dysplasia in children". World J Surg Oncol. 16 (1): 5. doi:10.1186/s12957-017-1302-5. PMC 5769533. PMID 29335001.
  15. Simm PJ, Biggin A, Zacharin MR, Rodda CP, Tham E, Siafarikas A; et al. (2018). "Consensus guidelines on the use of bisphosphonate therapy in children and adolescents". J Paediatr Child Health. 54 (3): 223–233. doi:10.1111/jpc.13768. PMID 29504223.
  16. Gresky J, Kalmykov A, Berezina N (2018). "Benign fibro-osseous lesion of the mandible in a Middle Bronze Age skeleton from Southern Russia". Int J Paleopathol. 20: 90–97. doi:10.1016/j.ijpp.2017.09.001. PMID 29496222.
  17. Ostertag H, Glombitza S (2018). "[The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions]". Pathologe. 39 (2): 146–153. doi:10.1007/s00292-018-0417-y. PMID 29488004.
  18. Ahmad M, Gaalaas L (2018). "Fibro-Osseous and Other Lesions of Bone in the Jaws". Radiol Clin North Am. 56 (1): 91–104. doi:10.1016/j.rcl.2017.08.007. PMID 29157551.
  19. Gatimel N, Moreau J, Parinaud J, Léandri RD (2017). "Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017". Andrology. 5 (5): 845–862. doi:10.1111/andr.12389. PMID 28692759.

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