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    Fibrous Dysplasia & Osteofibrous Dysplasia: By: Dian Kalista

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    Ferryzal Okvianda
    Fibrous dysplasia and osteofibrous dysplasia are benign fibro-osseous lesions that can involve one or more bones. Fibrous dysplasia is caused by activating mutations in the GNAS1 gene and can be monostotic (involving one bone) or polyostotic (involving multiple bones). It most commonly affects the skull, femur, and tibia. Osteofibrous dysplasia typically involves the proximal or middle tibia of young boys and has been associated with adamantinoma. Both conditions are diagnosed based on imaging and histopathology and often resolve spontaneously without treatment.

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    Fibrous Dysplasia & Osteofibrous Dysplasia: By: Dian Kalista

    Uploaded by

    Ferryzal Okvianda
    60 views35 pages
    Fibrous dysplasia and osteofibrous dysplasia are benign fibro-osseous lesions that can involve one or more bones. Fibrous dysplasia is caused by activating mutations in the GNAS1 gene and can be monostotic (involving one bone) or polyostotic (involving multiple bones). It most commonly affects the skull, femur, and tibia. Osteofibrous dysplasia typically involves the proximal or middle tibia of young boys and has been associated with adamantinoma. Both conditions are diagnosed based on imaging and histopathology and often resolve spontaneously without treatment.

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    Fibrous Dysplasia

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    Fibrous dysplasia and osteofibrous dysplasia are benign fibro-osseous lesions that can involve one or more bones. Fibrous dysplasia is caused by activating mutations in the GNAS1 gene and can be monostotic (involving one bone) or polyostotic (involving multiple bones). It most commonly affects the skull, femur, and tibia. Osteofibrous dysplasia typically involves the proximal or middle tibia of young boys and has been associated with adamantinoma. Both conditions are diagnosed based on imaging and histopathology and often resolve spontaneously without treatment.

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    Attribution Non-Commercial (BY-NC)
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    60 views35 pages

    Fibrous Dysplasia & Osteofibrous Dysplasia: By: Dian Kalista

    Uploaded by

    Ferryzal Okvianda
    Fibrous dysplasia and osteofibrous dysplasia are benign fibro-osseous lesions that can involve one or more bones. Fibrous dysplasia is caused by activating mutations in the GNAS1 gene and can be monostotic (involving one bone) or polyostotic (involving multiple bones). It most commonly affects the skull, femur, and tibia. Osteofibrous dysplasia typically involves the proximal or middle tibia of young boys and has been associated with adamantinoma. Both conditions are diagnosed based on imaging and histopathology and often resolve spontaneously without treatment.

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    of 35

    FIBROUS DYSPLASIA Click to edit Master subtitle style & OSTEOFIBROUS DYSPLASIA

    By : Dian Kalista

    3/24/12

    Click to edit Master subtitle style

    FIBROUS DYSPLASIA
    3/24/12

    Definition

    Benign medullary fibro-osseous lesion which may involve one or more bones.
    Synonyms
    Fibrocartilagenous dysplasia Generalized fibrocystic disease of bone

    3/24/12

    Epidemiology
    Children All

    and adults

    racial groups sex distribution form > polyostotic fibrous

    Equal

    Monostotic

    dysplasia

    3/24/12

    Aetiology
    Activating

    mutations of the G proteins.

    3/24/12

    Sites of involvement

    The most common in surgical : gnathic (jaw) bones (symptomatic) Sexual distribution :
    Women : Long bones Men : ribs and skull

    Monostotic form :
    Head (35%) Femur and tibia (second 1/3) Ribs (20%)

    Polyostotic form :
    Femur

    3/24/12 Pelvis

    Clinical features
    Monostotic The

    or polyostotic form

    latter case :

    one extremity one side of the body diffuse

    The The
    3/24/12

    polyostotic form manifests earlier in life than the monostotic form. lesion :
    Asymptomatic

    Associated

    with oncogenic osteomalacia

    The

    polyostotic form is intimately associated with McCune-Albright syndrome :

    endocrine abnormalities and skin pigmentation.


    There

    is also a relationship between fibrous dysplasia and intramuscular myxomas (Mazabraud syndrome).

    3/24/12

    Imaging
    X

    ray :
    ground glass matrix.

    Non-aggressive geographic lesion with a No soft-tissue extension No periosteal reaction unless there is a

    complicating fracture.
    CT

    scans and MRI further delineate these features and better define the extent

    3/24/12

    3/24/12

    Macroscopy
    Expanded Tan

    bone consistency

    grey colour contain some yellow-tinged fluid

    Firm-to-gritty Cysts

    Cartilage

    stands out as sharplycircumscribed of blue-tinged translucent material.

    3/24/12

    3/24/12

    Histopathology
    Well

    circumscribed

    Composed The The

    of fibrous and osseous components fibrous component : cytologically bland spindle cells with low mitotic rate. osseous component :
    Irregular curvilinear trabeculae of woven (or

    rarely lamellar)bone.
    The form of rounded psammomatous or
    3/24/12

    cementum-like bone.

    3/24/12

    Genetics
    Activating

    mutations in the GNAS1 gene, encoding the alfa subunit of stimulatory G protein. chromosome aberrations. changes : structural rearrangements involving 12p13 and trisomy 2.

    Clonal

    Recurrent

    3/24/12

    Treatment
    Currettage Bone

    graft

    3/24/12

    Prognostic factors
    The

    prognosis is good. transformation occurs rarely.

    Malignant

    3/24/12

    Click to edit Master subtitle style

    OSTEOFIBROUS DYSPLASIA
    3/24/12

    Definition

    Selflimited benign fibro-osseous lesion of bone characteristically involving cortical bone of the anterior mid-shaft of the tibia during infancy and childhood.
    Synonyms
    Kempson-Campanacci lesion Cortical fibrous dysplasia
    3/24/12

    Epidemiology
    Boys. First

    two decades of life with a precipitous drop-off thereafter. rare after skeletal maturation

    Neonates. Extremely

    (15 y.o.)

    3/24/12

    Aetiology
    Association

    between OFD and adamantinoma (OFD-like adamantinoma) novo.

    De

    3/24/12

    Sites of involvement
    The

    proximal or middle-third of the tibia :

    Most often Bilateral with ipsilateral or contralateral

    involvement of the fibula.


    The

    ulna and radius.

    Multifocal

    or large confluent lesions oriented longitudinally along the cortical axis are not unusual.

    3/24/12

    Clinical features
    Swelling Painless Slow Well

    deforming bowing of the involved segment of the limb. growth. demarcated (thinning, expanding or even missing cortex). lesions are aggressive and may involve the entire bone with significant bowing deformity. epicentered in the cortical bone

    Some

    3/24/12 Typically

    Imaging
    X

    ray :
    radiodense than soft tissue.

    Radiodensity of the interior of the lytic foci > Periosteal reactions and soft tissue

    extensions are unusual.


    Bone CT

    scans are typically hot.

    scans, delineate a cortical epicentre to the lesion :


    Not breaking through into the soft tissue

    Demarcated 3/24/12

    from medullary bone by

    3/24/12

    Macroscopy
    Solid

    with a whitish, yellowish or reddish colour and soft or gritty texture blending into the surrounding host bone. periosteum often appears intact but the cortex is thin or absent. medullary extension is usually demarcated by a sclerotic rim.

    The The

    3/24/12

    Histopathology
    Irregular Rimmed

    fragments of woven bone

    by lamellar layers of bone laid down by well defined osteoblasts. may be present. fibrous component consists of :

    Osteoclasts The

    bland spindle cells with collagen production matrix that varies from a myxoid component

    to one that is moderately fibrous.

    Mitoses
    3/24/12

    are extremely rare.

    Secondary

    changes :

    Hyalinization Haemorrhage Xanthomatous change Cyst formation Foci of giant cells are rare.

    Cartilage

    or clusters of epithelial cells are absent.

    3/24/12

    3/24/12

    Immunophenotype
    Vimentin S100 Leu7. Isolated Keratin

    cytokeratin positive mast cells

    positive epithelial cells (OFD like adamantinoma)

    3/24/12

    Genetics
    Numerical FOS

    chromosomal abberations, trisomy 7 and 8 and JUN proto-oncogene products. of the alpha-subunit of signal transducing G-proteins with an increase in cyclic AMP formation are specifically absent.

    Mutations

    3/24/12

    3/24/12

    Treatment
    Resection Bone

    graft

    3/24/12

    Prognostic factors
    Gradual

    of life

    growth during the first decade at about 15 years of age

    Stabilization Healing

    or spontaneous resolution.

    The progression of OFD-like adamantinoma (or OFD with keratin positive cells) to classic adamantinoma is possible.

    3/24/12

    Referrence
    Salter

    RB. Neoplasm of Musculoskeletal Tissues. In : Textbook of Disorders and Injuries of the Musculoskeletal System 3rd ed. William&Wilkins. Baltimore.1999.

    Siegal

    J, Dal Cin P, Araujo ES. Chapter XX: Fibrous Dysplasia. In : World Health Organization Classification of Tumours : Pathology and Genetics of Tumours of Soft Tissue and Bone. Fletcher CDM, Unni KK, Mertens F Eds. 3/24/12 IARCPress.Lyon. 2002.

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