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Fibrous dysplasia of bone

Olasode oluwatoyin

Outline
Definition etiology Epidemology Histology Pathology Types

definition
Benign condition in which normal bone is replaced by fibrous connective tissue due to a defect in osteoblast differentiation and maturation Fibrous dysplasia is a non inherited developmental anomaly of bone in which normal bone marrow is replaced by fibro-osseous tissue. This condition was first described in 1942 by Lichtenstein and Jaffe[hence, fibrous dysplasia is sometimes referred to as Lichtenstein-Jaffe disease.

An asymptomatic self-limiting regional alteration of bone in which the normal structure is replaced by fibrous tissue & nonfunctional trabeculae-like osseous structures (metaplastic woven bone).

etiology
The etiology of fibrous dysplasia has been linked to an activating mutation in the gene that encodes the alpha subunit of stimulatory G protein (G(s)alpha) located at 20q13

Epidemiology
Incidence not known Females > males No race predilection Initial symptoms manifest age 3-15 Not heritable Questionable genetic transformation Malignant transformation in < 1%

Histology
Histologically, fibrous dysplasia features irregularly shaped trabeculae of immature, woven bone in a background of variably cellular, loosely arranged fibrous stroma The spicules of bone are often curvilinear or branching, and they have a "Chinese character" or "alphabet soup appearance. The delicate trabeculae do not have osteoid rims, but they do have minimal osteoblastic rimming

The fibroblasts usually have plump, ovoid nuclei, although elongated, narrow nuclei are sometimes also seen Benign lesions that histologically can be confused with FD are osteofibrous dysplasia of long bones and desmoplastic fibroma

The spicules of woven bone are curvilinear and have a "Chinese character" shape, and they are set in a stroma of variably cellular fibrous connective tissue.

pathology
It is caused by mis-sense mutations occurring post-zygotically in the gene coding for the subunit of the stimulatory G-protein, Gs, in the guanine nucleotide binding, alpha stimulating (GNAS) complex locus in chromosome 20q13. This mutation results in osteoblastic differentiation defects, and bone resorption is often increased. The abnormal G1 protein stimulates cyclic adenosine monophosphate (AMP), and the osteoblastic cells expressing this mutation have a higher rate of DNA synthesis than normal cells.

This abnormal growth leads to the formation of a disorganized fibrotic bone matrix with primitive bone formation, and lack of maturation to lamellar bone. Mineralization is also abnormal. There is a failure of the bone to align in response to mechanical stress. This defect is seen in the monostotic as well as the polyostotic forms of fibrous dysplasia. The extent of disease is related to the stage at which the postzygotic mutation in Gs has occurred, whether during embryonic development or postnatally.

Types
Monostotic
Juvenile adult

Polystotic
Jaffe-Lichtenstein syndrome Mc Cune-Albright syndrome cherubism

Monostotic
The monostotic form of fibrous dysplasia comprises approximately 80% of all cases and is seen in patients between 10 and 70 years old The most common sites of involvement include the rib, femur, tibia, mandible, skull, and humerus. Solitary involvement of other bones is unusual.

A-monostotic juvenile F.D:- its the most common type It grows slowly & ceases in the late teens or early twenties Clinically appears as facial asymmetry, mostly affect the max., & cause displacement of the teeth This type affect a single bone

Xray - It has different appearance, in the early stage appear as radiolucency, then in the late stage with bone formation they become more radiopaque giving ground glass or cotton wool appearance

Treatment:
Surgical correction for cosmetic reason, but this done when the patient reaches adulthood age. Radiotherapy is excluded because of risk of malignant transformation

polystotic
The polyostotic form of fibrous dysplasia may involve many or few bones, most commonly the skull and facial bones, pelvis, spine and shoulder. Polyostotic fibrous dysplasia is often unilateral, sometimes showing a monomelic pattern. It tends to involve larger segments of bone and is frequently associated with fractures and severe deformities.

Polyostotic Fibrous Dysplasia


Characterized by involvement of more than one bone
Typically occurs in children with a female predilection When long bones are involved, they may exhibit bowing and an associated dull aching pain. Patients may have skin lesions appearing as light-brown macules called caf au lait spots.

Polyostotic Fibrous Dysplasia (cont.)


There are several types Craniofacial fibrous dysplasia Involves the maxilla with extension into the sinuses and adjacent zygoma, sphenoid, and occipital bones Jaffe type Involves multiple bones along with caf au lait macules on the skin Albright syndrome Characterized by endocrine abnormalities, precocious puberty in females, stunting or deformity of skeletal growth in both sexes as a result of premature closing of the epiphyseal plates caf au lait spots

caf au lait spot.

The term leontiasis ossea describes a rare form of polyostotic disease that involves the frontal and facial bones and results in marked deformities resembling a lion's face

Another craniofacial entity, known as cherubism, is a hereditary fibrous lesion of bone, symmetrically involving the mandible and often the maxilla Although sometimes classified as a variant of fibrous dysplasia, cherubism likely actually represents a form of giant cell reparative granuloma, from which it is histologically indistinguishable

cherubism
Its autosomal dominant fibro-osseous lesion of the jaws Involving more than one quadrant, usually the mand. In a bilateral symmetrical manner at early childhood. The disease is slowly growing, associated with sever malocclusion. The condition stops when the patient reaches puberty.

Polyostotic Fibrous Dysplasia (cont.)


Clinical and radiographic features A painless enlargement of affected bone or bones Typically, a painless, progressive, unilateral enlargement of the mandible or maxilla. The classic radiographic appearance is a diffuse radiopacity looking like ground glass.

Polyostotic Fibrous Dysplasia (cont.)


Diagnosis and treatment
Characterized by cellular fibrous connective tissue interspersed with irregularly shaped bony trabeculae In fibrous dysplasia, radiographic changes blend into the surrounding normal bone.

Treatment
Surgical recontouring of bone for cosmetic reasons

Polyostotic Fibrous Dysplasia (cont.)

Differential Diagnosis
Eosinophilic granuloma Nonossifying fibroma Bone hemangioma Hyperparathyroidism Pagets disease Browns tumor Aneurysmal bone cyst osteosarcoma

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