Some patients can present with endocrine dysfunction generally precocious puberty and cutaneous cafeaulait spots. Jul 29, 2019 fibrous dysplasia is an uncommon bone disorder in which scarlike fibrous tissue develops in place of normal bone. Fibrous dysplasia, osteofibrous dysplasia, and adamantinoma. This tissue is not as hard as normal bone, and because it is soft and stringy, it makes the bone. This lesion is the result of a metabolic bone disease that. Osteogenesis imperfecta brittle bone syndrome osteopetrosismarble bone disease achondroplasia cleidocranial dysplasia cherubism achodroplasia fibroosseous lesions fibrous dysplasia of bone cementoosseous dysplasia. Some early cortical breakthrough along the anterior margin. More than one bone can be affected at any one time. Fibrous dysplasia of the skull and its differential. Fibrous dysplasia fd belongs to a group of nonhereditary benign pathologies in which immature bone and fibrous stroma replaces normal medullary bone. Fibrous dysplasia is an uncommon bone disorder in which scarlike fibrous tissue develops in place of normal bone. Fibrous dysplasia is a benign bone disorder characterized by the presence of fibrous tissue containing trabeculae composed of nonlamellar bone. It can also be associated with aneurysmal bone cysts.
The disease may affect a single bone monostotic or multiple bones polyostotic. The condition presents as a solitary lesion monostotic or with multiple foci polyostotic. Fibrous dysplasia childrens hospital of philadelphia. Shepherd crook deformity of the left femur with a large, irregular lucent lesion expanding the femoral neck through proximal diaphysis. The roentgenographic appearance in the cranial bones ranges from small, simple translucent areas to massive, sclerotic overgrowth. Imaging of pagets disease and fibrous dysplasia of bone.
Fibrous dysplasia is a typically benign bone lesion characterized by. Jun 30, 2017 fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. Fibrous dysplasia and ossifying fibroma an advent in their. Fibrous dysplasia, rare congenital developmental disorder beginning in childhood and characterized by replacement of solid calcified bone with fibrous tissue, often only on one side of the body and primarily in the long bones and pelvis. The treatment of choice for lowgrade central osteosarcoma is resection with a wide surgical margin. The etiology of fibrous dysplasia is not entirely clear, but there is growing evidence of a genetic mechanism. Fibrous dysplasia is categorized as either monostotic or polyostotic and may occur as a component of mccunealbright syndrome or the rare mazabraud syndrome. Fibrous dysplasia of bone fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in the formation of bone that is weak and prone to expansion. Fibrous osteodystrophy fod figure 1, figure 2, and figure 3 previously referred to as osteodysplasia, fibrous dysplasia, and osteofibrosis is characterized by osteoclastic resorption of cancellous or cortical bone, with replacement by loose to mature fibrous connective tissue. Fibrous dysplasia is a developmental disorder of bone that can present in a monostotic or polyostotic form. This disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions to severe disabling disease. Fd may be diagnosed clinically in patients with polyostotic disease andor. Bone pathology is the second edition of the book, a compendium of skeletal pathology that published 10 years ago.
Monostotic fibrous dysplasia is more common than polyostotic fibrous dysplasia. Few smaller lucencies in the left pelvisacetabulum. Mar 16, 2020 focused fibrous dysplasia with stained slides of pathology. In light of the paucity of data, but need for guidance. It appears similar to a tumor on radiological studies.
May 24, 2012 the surgical management of polyostotic fibrous dysplasia fd of bone is technically demanding. Similar to the prior edition, this book complements standard pathology texts and blends new but relatively established information on the molecular biology of the bone. The dilemma in diagnosis of these lesions rests in the bony trabeculae as well as in the fibrous stroma. It may involve one bone or multiple bones polyostotic. Fibrous dysplasia fd is a benign, nonheritable developmental bone disorder characterized by the. Fibrous dysplasia pathogenesis and histopathology youtube. In most cases, fibrous dysplasia occurs at a single site in one bone, but can occur at multiple sites in multiple bones. Fibrous dysplasia high quality pathology images of orthopedic. Areas of healthy bone are replaced with this fibrous tissue. Bone resorption, osteoblastic repair, loss of the lamina dura, hypercementosis. Fibrous dysplasia is caused by the inability of the bone forming tissue to produce mature bone due to a genetic mutation in a g protein. Fibrous dysplasia is a tumor like developmental condition, characterised by proliferation of abnormal cellular fibrous connective tissue with irregular trabecular bone replacing the normal. This book is distributed under the terms of the creative commons.
What is the name of the type of fibrous dysplasia that involves the maxilla and adjacent bones. Mature lamellar bone can be seen at the periphery but should not be part of the lesion itself. Medical and scientific advisors fibrous dysplasia foundation. Fibrous dysplasia can present in one bone monostotic or multiple bones polyostotic and can be associated with other conditions table i. Fibrous dysplasia fd is a skeletal anomaly in which normal bone is replaced and distorted by poorly organized and inadequately mineralized, immature, woven bone and fibrous connective tissue. Fibrous dysplasia is a benign noncancer chronic problem in which scarlike tissue grows in place of normal bone. Fibrous dysplasia fibroosseous metaplasia is one of a diverse group of diseases that are characterized by alterations in bone growth. Fibrous dysplasia is a skeletal disorder in which bone forming cells fail to mature and produce too much fibrous, or connective, tissue.
Fibrous dysplasia and ossifying fibroma of the paranasal sinuses volume 112 issue 10 d. In the major text books on bone pathology, fibrous dysplasia fd is regarded as a nonneoplastic process. Here are links to possibly useful sources of information about fibrous dysplasia of bone. The stroma may be variably collagenized, and the ratio of fibrous tissue to bone can range from being. Fibrous dysplasia is a typically benign bone lesion characterized by intramedullary fibroosseous proliferation secondary to altered osteogenesis.
The fibrous dysplasia foundation scientific advisory council sac is made up of medical clinicians and researchers with knowledge of skeletal disease and good scientific practice in the investigation of complex multisystem endocrine related rare diseases. Milford skip to main content accessibility help we use cookies to distinguish you from other users and to provide you with a better experience on our websites. Fibrous dysplasia of the jaws wiley online library. Fibrous dysplasia of the craniofacial bones volume 88 issue 5 i. Postzygotic somatic activating mutations of the gnas1 gene 10, which encodes the. However, fibrous dysplasia may be complicated by pathologic fracture, and rarely by malignant degeneration. Lord please note, due to essential maintenance online purchasing will not be possible between 03. Jan 24, 2014 fibrous dysplasia conforms to the shape of the involved bone. Fibrous dysplasia fd is a nonneoplastic tumorlike congenital process, manifested as a localized defect in osteoblastic differentiation and maturation, with the replacement of normal bone with large fibrous stroma and islands of immature woven bone. Focused fibrous dysplasia with stained slides of pathology.
Fibrous dysplasia overview nih osteoporosis and related. Fibrous dysplasia fd is a rare bony disorder in which normal bone is replaced by abnormal fibroosseous tissue. Clinical examination revealed cranial nerve iii palsy with ptosis of the right eye and diplopia with gaze. Fibrous dysplasia can occur in any part of the skeleton but the bones of the skull and face, thigh, shin, ribs, upper arm and pelvis are most commonly affected. As a result, most complications result from fracture, deformity, functional impairment, and pain. Consequently, it is often misdiagnosed as a benign fibrous lesion, most commonly fibrous dysplasia. Bone pathology, osteogenesis imperfecta, pulmonary hypoplasia, cleidocranial dysplasia, globular amorphous bone, central giant cell granuloma, cellular fibrous tissue, active fibroblasts, myofibroblasts, cherubism. Fibrous dysplasia is a chronic problem in which scarlike tissue grows in place of normal bone. The disease process may be localized to a single bone monostotic fibrous dysplasia or multiple bones polyostotic fibrous dysplasia. Diffuse polyostotic lesions in large weightbearing bones. Fibrous dysplasia may involve one or more bones and these presen tations are termed. Pathophysiology and medical treatment of pain in fibrous. Modern imaging modalities and histopathologic analysis have made diagnosis relatively straightforward. For the polyostotic form, the lesions often occur in younger patients and can involve numerous bones, sometimes more than half of the bones in the skeletal system.
This process may be localized to a single bone, or even a small segment thereof, or affect the skeleton diffusely. First introduced by lichtenstein and jaffe in 1942 and originally termed jaffelichtenstein syndrome, fibrous dysplasia can occur in monostotic form single bone or polyostotic form multiple bones. Fibrous dysplasia of bone article about fibrous dysplasia. Fibrous dysplasia genetic and rare diseases information. The clinical features of fibrous dysplasia mccunealbright syndrome involve disease in the following areas.
The gene for fd is located on band 20q, an area that codes for the. Jaffefibrous dysplasia of bone, a condition affecting one, several or. Fibrous dysplasia of bone definition of fibrous dysplasia. Monostotic fibrous dysplasia is the least complicated type of fibrous dysplasia. Fibrous dysplasia and ossifying fibroma of the paranasal. The patient reported a history of similar but milder symptoms 2 years prior, and subsequent computed tomography ct scan of the head was reported as fibrous dysplasia fd of the right sphenoid bone. Fibrous dysplasia an overview sciencedirect topics. Benign fibroosseous lesion that may involve one monostotic or multiple polyostotic bones. The new edition updates and distills all of the most important content from dr.
Jul 20, 2019 the heart of the book is a comprehensive text that covers the breadth of bone pathology. The surgical management of fibrous dysplasia of bone. Please vote below and help us build the most advanced adaptive learning platform in medicine. The monostotic form is about six times as common as the polyostotic form. Fibrous dysplasia has a varied radiographic appearance. Fibrous dysplasia happens when abnormal fibrous scarlike tissue replaces healthy bone. Modern pathology fibrous dysplasia left vs ossifying fibroma right molecular. Bone was designed for practicing pathologists who need access to uptodate, comprehensive, and concise bone pathology knowledge in one convenient place. Fibrous dysplasia has a classic histology of low to moderately cellular fibrous stroma surrounding irregular, curvilinear trabeculae of woven bone, which is arranged in a pattern commonly referred to as resembling chinese characters figure 3. Cases of fibrous dysplasia showing lamellated bony trabeculae and osteoblastic rimming have been reported which may.
Most people have symptoms by the time they are 30 years old. It is a developmental, tumorlike process of unknown etiology. It is included in the chapter on conditions that simulate. Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. Skeletal fibrous dysplasia is a developmental anomaly in which normal bone marrow is replaced by fibroosseous tissue. Keywords betacatenin, bone lesions, fibroosseous lesions, gnas1, pathology. Fibrous dysplasia is a condition that causes abnormal growth or swelling of bone. Special forms of fibrous dysplasia leontiasis ossea. There are specificities in the pathophysiology of bone pain compared to other tissues, including the role of increased bone resorption.
The replacement of normal bone in fibrous dysplasia can lead to pain, misshapen bones, and fracture, especially when it occurs in the long bones. Disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions, to severe disabling disease. Lowgrade central osteosarcoma versus fibrous dysplasia. When multiple bones are affected, it is often bones on 1 side of the. The surgical pathology specimen consisted of multiple fragments of bone aggregating to 4. It affects only one bone and most often occurs in the ribs, thigh bone, shin bone, or one of the facial bones.
Histologically, lgcos is a bone forming tumor with a spindle cell stroma showing minimal cytologic atypia. Closely related to fibrous dysplasia but osteofibrous dysplasia is a cortical not medullary lesion with osteoblastic rimming of bone and lamellar bone that does mature. Approximately 30% of monostotic fd mfd lesions are found in the cranial or facial bones. Fibrous dysplasia is a benign and pseudoneoplasic osteopathy with slow progression, characterized by the replacement of normal bone by an excessive proliferation of fibrous connective tissue cell. How important is this topic for board examinations. Fibrous dysplasia may involve one monostotic or multiple bones. Fibrous dysplasia has a classic histology of low to moderately cellular fibrous stroma surrounding irregular, curvilinear trabeculae of woven bone, which is arranged in a pattern commonly referred to as resembling chinese characters. The affected bone becomes enlarged, brittle and warped. Bone fibrous osteodystrophy nonneoplastic lesion atlas. The disease appears to result from a genetic mutation that. Fibrous dysplasia is a genetic disease caused by activating missense mutations of the gsa gene. Primarily affecting adolescents and young adults, it accounts for 7% of benign bone tumors. Surgery, particularly in a challenging region such as the skull base, should be reserved for patients with functional impairment or a cosmetic deformity. It includes the latest diagnostic information in this challenging subspecialty, while its unique image collection serves as an exceptional educational aid.
Fibrous dysplasia fd is a nonneoplastic tumorlike congenital process, manifested as a localized defect in osteoblastic differentiation and maturation, with replacement of normal bone with large fibrous stroma and islands of immature woven bone. Rather than dividing the main text of the book into chapters based on specific entity names e. Resnick and 38 other distinguished experts zero in on the specific, stateoftheart musculoskeletal. Development of abnormal amounts of fibrous tissue in the. This irregular tissue can weaken the affected bone and cause it to deform or fracture. Fibrous dysplasia of the craniofacial bones the journal of. The marked variation in the degree and pattern of bone involvement has made it difficult to acquire data to guide the surgeons approach to these patients. It often involves the long bones, craniofacial bones, ribs, and pelvis. Symptoms of fibrous dysplasia can include bone pain, misshapen bones, and broken bones. The skull is a frequent site of the pathologic process now known as fibrous dysplasia and the skull changes are often the only manifestation of the disease. Fibrous dysplasia involving the skull base and temporal bone. Fibrous dysplasia conditions pediatric bone health.
In the major textbooks on bone pathology, fibrous dysplasia fd is regarded as a nonneoplastic process. Mean age years, range 039 years, no gender preference. Also called fibroosseous dysplasia, ossifying fibroma of long bones, campanaccis lesion mean age years, range 039 years, no gender preference closely related to fibrous dysplasia but osteofibrous dysplasia is a cortical not medullary lesion with osteoblastic rimming of bone and lamellar bone that does mature. Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in the formation of bone that is weak and prone to expansion. Imaging findings of fibrous dysplasia with histopathologic. Find out information about fibrous dysplasia of bone. Fibrous dysplasia conforms to the shape of the involved bone. Malignant sarcomatous transformation of fibrous dysplasia. Donald resnicks 5volume diagnosis of bone and joint disorders, 4th edition into a single, concise source. The most effective methods to manage the associated bone deformity remain unclear.
The trabeculae in fibrous dysplasia are composed of woven bone with various phases of mineralization. Fibrous dysplasia of bone fd is a rare disease responsible for bone deformities, fractures, nerve compression and bone pain. Fibrous dysplasia is a bone disease that replaces normal bone with fibrous type tissue. Fibrous dysplasia of bone is a disease that can involve one or several bones and is characterized by bone deformities, pain and iterative fractures. This disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions. Its initial clinical sign is usually a painless enlargement of the affected bone. Chapter 8 oral pathology multiplechoice flashcards quizlet. Extensive formation of fibrous tissue and transformation of bony tissue in one or more bones. When multiple bones are affected, it is not unusual for.
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