Fibrous dysplasia can present with pain and swelling of the involved bones. It may involve one bone or multiple bones polyostotic. Monostotic fibrous dysplasia is the least complicated type of fibrous dysplasia. It appears similar to a tumor on radiological studies. Fibrous dysplasia is a disturbance of bone metabolism that is classified as a. Polyostotic fibrous dysplasia pfd is a nonhereditary congenital and benign disease of the bone. The gene for fd is located on band 20q, an area that codes for the. Dec 11, 2018 a genetic disorder that is characterized by polyostotic fibrous dysplasia along with skin pigmentation and hormonal problems, with premature sexual development, is known as mccunealbrights syndrome. Fibrous dysplasia is a skeletal disorder in which boneforming cells fail to mature and produce too much fibrous, or connective, tissue. Craniomaxillofacial fibrous dysplasia fd is a benign bone lesion characterized by facial disfigurement and functional impairment.
Most cases of craniofacial fibrous dysplasia cannot be truly categorized as monostotic because of the involvement of multiple adjacent bones of the craniofacial skeleton. A rare bone disorder characterized by benign bone growths which can cause very painful swellings and bone deformities and makes bone prone to fractures. Polyostotic fibrous dysplasia article about polyostotic. Fibrous dysplasia can involve multiple bones polyostotic or a single bone. Fibrous dysplasia treatment, symptoms, causes, pictures. Fibrous dysplasia and ossifying fibroma an advent in. 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. Pdf fibrous dysplasia of the bones is an uncommon congenital skeletal disorder that is found equally in both genders and is not inherited. Volume 15 number 8 august, 1962 surgery medicine and pathology operative oral surgery fibrous dysplasia a case of unilateral polyostotic lesions with facial bone involvement h. Answer to radiologic case study polyostotic fibrous dysplasia.
The histologic appearance was consistent with fibrous dysplasia figure 4. Fibrous dysplasia fd is a nonmalignant fibroosseous bony lesion in which the involved bonebones gradually get converted into expanding cystic and fibrous. Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. Dec 10, 2018 fibrous dysplasia accounts for about 5% of all benign bone tumors. Fibrous dysplasia a term first suggested by lichtenstein and jaffe in 1942 of bone is a nonheritable disease in which abnormal tissue develops in place of normal bone. Polyostotic fibrous dysplasia on mri radiology case. Fibrous dysplasia is first diagnosed in infancy and childhood 7, mainly in the first and second decades 8. Intravenous pamidronate treatment of polyostotic fibrous dysplasia associated with the mccune albright syndrome. A disorder that features the replacement of multiple areas of bone by fibrous tissue, which may cause fractures and deformity of the legs, arms, and skull. Butler, syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction and others new england j. Polyostotic fibrous dysplasia definition of polyostotic.
In most cases, fibrous dysplasia occurs at a single site in one bone, but can occur at multiple sites in multiple bones. As a consequence of this bone fragility, patients have an increased 50% risk of fracture. It is characterized by a heavy buildup of scar tissue, also known as fibrous tissue, within your bones. This irregular tissue can weaken the affected bone and cause it to deform or fracture.
It causes normal bone to be replaced with fibrous tissue that is abnormal. This risk of fractures or bone deformity is higher in the long bones eg, femur, tibia, and humerus, but all the bones can be affected. Fibrous dysplasia is a disease that causes growths or lesions in one or more bones of the human body. Craniofacial fibrous dysplasia in an elderly patient. Orthopedic surgery for fibrous dysplasia treatment. Fibrous dysplasia is a monostotic or polyostotic bone growth disorder caused by mosaicism involving the mesenchymal tissue. Usually, fibrous dysplasia presents clinically in children and adolescents, with a median onset age of 8 years. Fibrous dysplasia overview nih osteoporosis and related. Polyostotic fibrous dysplasia mccune albright syndrome.
Fibrous dysplasia has a varied radiographic appearance. The aim of this study was to characterize the epidemiological and clinical features of craniomaxillofacial fd by presenting data from a representative chinese population during a 15year period 19942009. Differential diagnoses includes osteofibrous dysplasia, osteochondroma. This is a case report of polyostotic fibrous dysplasia fd in an 18yearold hispanic man referred to the authors institution for. Polyostotic fibrous dysplasia of bone sciencedirect. Histologically proven the case reported that she had endocrinal abnormalities in form of disturbed menstrual cycle. The replacement of normal bone in fibrous dysplasia can lead to pain, misshapen bones, and fracture, especially when it occurs in the long bones. The monostotic form is more common than the polyostotic form. This abnormal fibrous tissue weakens the bone, making it abnormally fragile and prone to fracture. It comprises a majority of the cases of fibrous dysplasia. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs.
Today we divide fibrous dysplasia into several forms and syndromes. The condition may be diagnosed, therefore, even in a person with no symptoms who is getting an xray for other reasons. Discussion fibrous dysplasia is a skeletal disorder in which normal bone marrow is replaced by abnormal fibroosseous connective tissue. Primarily affecting adolescents and young adults, it accounts for 7% of benign bone tumors. Fibrous dysplasia and ossifying fibroma an advent in their. Features consistent of polyostotic fibrous dysplasia. Feb 08, 2017 imaging findings are classic for polyostotic fibrous dysplasia. Fibrous dysplasia genetic and rare diseases information. Dec 10, 2018 treatment of fibrous dysplasia of bone with intravenous pamidronate. Fibrous dysplasia support groups online dailystrength.
The flat areas of increased skin pigment are called caf au lait spots. Fibrous dysplasia fd is a sporadic benign skeletal disorder that can affect one bone monostotic form or multiple bones polyostotic form. Fibrous dysplasia is a common benign skeletal lesion that may involve one bone monostotic or multiple bones polyostotic and occurs throughout the skeleton with a predilection for the long bones, ribs, and craniofacial bones. Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to.
Fibrous dysplasia is fibrous replacement of bone tissue. Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. Fibrous dysplasia represents about 2, 5% of all bone tumors and over 7% of all benign tumours. Polyostotic medical definition merriamwebster medical. Fibrous dysplasia is an uncommon bone disorder in which scarlike fibrous tissue develops in place of normal bone. The term craniofacial fibrous dysplasia cfd is used to describe fibrous dysplasia where the lesions are confined to contiguous bones of the craniofacial skeleton. It can occur in the bones in the front of the head andor. Fibrous dysplasia fd is an uncommon, but wellknown benign skeletal disorder. Fibrous dysplasia fd belongs to a group of nonhereditary benign pathologies in which immature bone and fibrous stroma replaces normal medullary bone. The area was biopsied, but an official diagnosis could not be ascertained. Two of 3 proximal femoral lesions which were treated before puberty by either curettage and bone grafting or by osteotomy, developed progressive deformity during the growth period. This is a medical condition that disturbs the process of bone regeneration.
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. Fibrous dysplasia diagnosis and treatment mayo clinic. What is an obvious complication that can occur from fibrous replacement of bone. Fibrous dysplasia fd is a benign intramedullary fibroosseous lesion. Abnormal development or growth, especially of cells explanation of polyostotic fibrous dysplasia.
Eight patients who had polyostotic fibrous dysplasia were followed up for more than 10 years. Polyostotic fibrous dysplasia is a rare disease, which was already described in 1938 by lichtenstein. Areas of healthy bone are replaced with this fibrous tissue. Monostotic fibrous dysplasia is a form of fibrous dysplasia where only one bone is involved.
Fibrous dysplasia results when fibrous tissue develops in a section of bone, causing it to become deformed. This is a rare condition that can be skillfully treated at the international craniofacial institute in dallas, texas, as these before and after photographs clearly show. While bone appears solid in an xray, a fibrous dysplasia lesion has a relative distinct appearance often described as ground glass. It may involve one bone monostotic or multiple bones polyostotic. Fibrous dysplasia lesions are characterized by woven ossified tissue and extensive marrow fibrosis. These lesions are tumorlike growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Fibrous dysplasia is first diagnosed in infancy and. Jul 29, 2019 fibrous dysplasia is an uncommon bone disorder in which scarlike fibrous tissue develops in place of normal bone. Aug 04, 2016 microscopic low power photograph of fibrous dysplasia jameela 24. Pfd is associated with bone pain and fractures due to bone fragility. Abnormalities may involve a single bone monostotic form. Fibrous dysplasia is caused by the inability of the boneforming tissue to produce mature bone due to a genetic mutation in a g protein.
Find out information about polyostotic fibrous dysplasia. Craniofacial fibrous dysplasia is 1 of 3 types of fibrous dysplasia that can affect the bones of the craniofacial complex, including the mandible and maxilla. In polyostotic form bisphosphonate therapy may be used for the management and. Clinical and radiographic features of chronic monostotic fibrous. The aim of this article is to represent a rare case of bilateral fibrous dysplasia of the upper and lower jaws, in combination with intellectual disability previously called mental retardation. Bone affected by this disorder is replaced by abnormal scarlike fibrous connective tissue. Fibrous dysplasia is a developmental disorder of bone that can present in a monostotic or polyostotic form.
The hormonal problems that can be related to polyostotic fibrous dysplasia include early puberty with premature menstrual bleeding and development of breasts and pubic hair, thyroid abnormalities, and an increased rate of growth. Fibrous dysplasia is a slowly progressing bone lesion resulting from displacement of the normal medullary bone with abnormal. In pfd, fibrouslike tissues with immature osteogenesis replace the normal bone. It can occur in the bones in the front of the head andor sphenoid bones that are situated at the base of the skull. A fairly typical example of polyostotic fibrous dysplasia is recorded in a girl of 4 12 years. Fibrous dysplasia is a nonneoplastic tumor like congenital process resulting in a localized absence of osteoblast differentiation. Dec 27, 2018 the flat areas of increased skin pigment are called caf au lait spots. Polyostotic fibrous dysplasia article about polyostotic fibrous dysplasia by the free dictionary. In cases affecting long bones, fd is commonly recognized to locate in the diaphyses or the metaphyses and to spare the epiphyses.
Fibrous dysplasia nord national organization for rare. The etiology of fibrous dysplasia has been linked to an activating mutation in the gene that encodes the. Case report the patient was a 78yearold white woman who, six years prior to her present admission, noticed a small, hard, painless swelling in the area of the left cheek. High power photograph of fibrous dysplasia shows woven bone produced by fibrous tissue. The primary tool for diagnosis of fibrous dysplasia is an xray.
On examination she had few cafe au lait spots over her thighs. International meeting on fibrous dysplasiamccunealbright. Jun 30, 2017 fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. Omim 174800 is an uncommon skeletal disorder with a broad spectrum of clinical expressions, ranging from an incidentally discovered asymptomatic radiographic finding, involving a single skeletal site, to a severe disabling disease.
Benign fibro osseous condition involving one or more bones of the cranial and extracranial skeleton, consists of nonencapsulated lesions which show replacement of normal bone by cellular fibrous tissues edwards 1984 originally introduced by lichtenstein in 1938 one of the most perplexing diseases of osseous tissues. Imaging findings are classic for polyostotic fibrous dysplasia. Polyostotic fibrous dysplasia mccunealbright syndrome. Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. Because many patients are asymptomatic, the true incidence of this disorder is unknown. Fibrous dysplasia differential diagnosis of cystic.
It affects only one bone and most often occurs in the ribs, thigh bone, shin bone, or one of the facial bones. 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. If this happens, it can eventually lead to deformation of facial features and affect the shape. Fibrous dysplasiamccune albright syndrome fdmas, the result of an early embryonic postzygotic somatic activating pathogenic variant in gnas encoding the camp pathwayassociated gprotein, gs. In this paper, we present a rare case of polyostotic fd in a yearold girl with unilateral multiple epiphyseal lesions arising in the femur, the tibia, and the fibula with the growth. Microscopic low power photograph of fibrous dysplasia jameela 24. Sometimes, the classic clinical, radiologic or pathologic features of fibrous dysplasia or ossifying fibroma may not be evident, but overlapping features of both may be seen. Jan 24, 2014 pelvis fibrous dysplasia expansile, lytic, bubbly lesion. As a result, most complications result from fracture, deformity, functional impairment, and pain.
The international meeting on fibrous dysplasiamccunealbright syndrome and cherubism. Allegheny general hospital in 1938 lichtenstein2 described a distinctive group of skeletal changes and em ployed the term polyostotic. Rib fibrous dysplasia expansile lytic lesion with no rib destruction. Fd is a bone developmental anomaly characterized by replacement of normal bone and marrow bone by fibrous tissue. Fibrous dysplasia may be present in monostotic or polyostotic form, or albrights syndrome,57,1517. Best clinical practice and future research was funded by the. Polyostotic fibrous dysplasia with epiphyseal involvement. Disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions, to severe disabling disease. Pelvis fibrous dysplasia expansile, lytic, bubbly lesion. As children grow, affected bone may become misshapen dysplastic. It involves any of the bones as single lesion monostotic or in multiple bone lesions polyostotic or all of the skeletal system panostotic. A genetic disorder that is characterized by polyostotic fibrous dysplasia along with skin pigmentation and hormonal problems, with premature sexual development, is known as mccunealbrights syndrome.
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