The following are set of recommendations for the diagnosis, treatment, and followup of patients with fd andor mas. 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. First named by lichtenstein in 1938, fibrous dysplasia fd is a noninherited, skeletal developmental abnormality, where normal bone is replaced by fibrous tissue and poorly formed area of immature bone. The disease appears to result from a genetic mutation that leads to the overproduction of fibrous tissue there are two types of fibrous. Primarily affecting adolescents and young adults, it. Fibrous dysplasia is a benign fibroosseous lesion characterised by the replacement of normal bone by excessive proliferation of cellular fibrous connective tissue which is slowly replaced by bone, osteoid, or cementumlike material. Introduction fibrous dysplasias fd are a group of nonhereditary benign pathologies in which immature bone and fibrous stroma replace normal medullary bone as a result of abnormal differentiation of osteoblasts characterized by solitary monostotic or. Nov 16, 2011 fibrous dysplasia fd is a sporadic benign skeletal disorder that can affect one bone monostotic form or multiple bones polyostotic bone. Disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions, to severe. Fibrous dysplasia is a disease that causes growths or lesions in one or more bones of the human body. Polyostotic fibrous dysplasia synonyms, polyostotic. Useful for identify multiple lesionspolyostotic form fig.
Polyostotic fibrous dysplasia definition of polyostotic. A genetic disorder that is characterized by polyostotic fibrous dysplasia along with skin pigmentation and hormonal problems, with premature sexual development. In the polyostotic form, patients are usually diagnosed by 10 years of age. For example, mccunealbright syndrome is characterized by polyostotic fibrous dysplasia that occurs with hormonal abnormalities and areas of darkened skin cafe au lait spots. Fibrous dysplasia polyostotic free download as powerpoint presentation. Fibrous dysplasia treatment, symptoms, causes, pictures. 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 of the jaws wiley online library. More recent studies report that polyostotic fibrous dysplasia and cafeaulait macules are invariably present, while monostotic lesions are less common 3. Hyperparathyroidism is rare in children, seldom runs such a slow course, and is accompanied by alterations of the serum calcium and phosphorus. In addition to fibrous dysplasia this syndrome may also lead to early puberty and skin.
It causes bone pain, deformities, and pathological fractures. Fibrous dysplasia involves the maxilla almost twice as often as the mandible and occurs more frequently in the posterior aspect. The monostotic form is more common than the polyostotic form. Polyostotic fibrous dysplasia this is a case report of polyostotic fibrous dysplasia fd in an 18yearold hispanic man referred to the authors institution for. Monostotic fibrous dysplasia with this type only one bone is affected and accounts for approximately seventy percent of all cases of fibrous dysplasia. What are synonyms for polyostotic fibrous dysplasia. 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.
Mccune albright sendromu icin kisa literatur ozeti. One of my friends son aged 14 years is suffering from fibrous dysplasia since the age of 6. Dec 10, 2018 fibrous dysplasia accounts for about 5% of all benign bone tumors. Mccunealbright syndrome presents with multiple unilateral bone lesions. Because many patients are asymptomatic, the true incidence of this disorder is unknown. Primarily affecting adolescents and young adults, it accounts for 7% of benign bone tumors. Fibrous dysplasia support groups online dailystrength. A genetic disorder that is characterized by polyostotic fibrous dysplasia along with skin pigmentation and hormonal problems, with premature sexual. Fibrous dysplasia nord national organization for rare. Fd is a bone developmental anomaly characterized by replacement of normal bone and marrow bone by fibrous tissue. The etiology of fibrous dysplasia has been linked to an activating mutation in the gene that encodes the. A case of fibrous dysplasia of polyostotic variety involving cervical spines, both sides of occipital bone besides mandible, maxilla, parietal, humerus, ulna, and radius of the left side is presented and briefly discussed.
Ap plain xray of fibrous dysplasia of the right shoulder showing an expanded lytic lesion involving the spine of the scapula. Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. My friend has lost all hope due to the repeated fractures of his son. It may involve one bone monostotic or multiple bones polyostotic. Clinical examination revealed cranial nerve iii palsy with ptosis of the right eye and diplopia with gaze. What is fibrous dysplasia affecting multiple bones. Imaging findings of fibrous dysplasia with histopathologic.
This abnormal fibrous tissue weakens the bone, making it abnormally fragile and prone to fracture. It may involve one bone or multiple bones polyostotic. Polyostotic medical definition merriamwebster medical. As a result, most complications result from fracture, deformity, functional impairment, and pain. The osseous structures affected by fibrous dysplasia are weaker than normal bone is susceptible to pathologic fracture. Fibrous dysplasia can present in one bone monostotic or multiple bones polyostotic and can be associated with other conditions table i. Polyostotic fibrous dysplasia is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental. Clinical guidelines for the management of craniofacial. This means that polyostotic fibrous dysplasia, or a subtype of polyostotic fibrous dysplasia, affects less than 200,000 people in the us population. Polyostotic fibrous dysplasia has its onset mainly in children younger than 10 years of age and the lesions grow with the child and stabilize after puberty. It involves any of the bones as single lesion monostotic or in multiple bone lesions polyostotic or all of the skeletal system panostotic. As children grow, affected bone may become misshapen dysplastic.
Feb 08, 2017 in the polyostotic form, patients are usually diagnosed by 10 years of age. On examination she had few cafe au lait spots over her thighs. Polyostotic fibrous dysplasia of bone sciencedirect. Malignant sarcomatous transformation of fibrous dysplasia.
Polyostotic fibrous dysplasia on mri radiology case. Orthopedic surgery for fibrous dysplasia clinical presentation. In general, fd presents in three forms monostotic, polyostotic, and polyostotic with endocrinopathies. Polyostotic fibrous dysplasia with this type it affects several bones and is often associated with mccunealbright syndrome, which is a. Polyostotic fibrous dysplasia synonyms, polyostotic fibrous. Detailed explanations for these recommendations may be found in the chapters on fdmas published in orphanet. Mccunealbright syndrome is a form of polyostotic fibrous dysplasia. Polyostotic fibrous dysplasia mccunealbright syndrome.
Axial ct reconstruction of the shoulder illustrates a lytic lesion of the right scapula consistent with fibrous dysplasia. Fibrous dysplasia fd is a sporadic benign skeletal disorder that can affect one. Fibrous dysplasia is a condition that causes abnormal growth or swelling of bone. Fibrous dysplasia genetic and rare diseases information. 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. Polyostotic fibrous dysplasia with this type it affects several bones and is often associated with mccunealbright syndrome, which is a genetic disorder that affects not only the bones but also many endocrine hormone producing tissues and your skin. Fibrous dysplasia is a developmental disorder of bone that can present in a monostotic or polyostotic form. A genetic disorder that is characterized by polyostotic fibrous dysplasia along with skin pigmentation and hormonal problems, with premature sexual development, is known as. Polyostotic fibrous dysplasia consist mainly of inter ference with skeletal development. Volume 5, issue 2, marchapril 2016 clinical cancer. Recommendations for endocrine followup of patientsread more. The objective of this study was to report our experience in the management of the monostotic fd of the ribs. The replacement of normal bone in fibrous dysplasia can lead to pain, misshapen bones, and fracture, especially when it occurs in the long bones.
It is very rare for areas of fibrous dysplasia to become malignant or cancerous. Pdf craniofacial polyostotic fibrous dysplasia researchgate. We report a case of craniofacial polyostotic fibrous dysplasia in a 16yearold female. In view of this i request you to kindly help this problem with some remedial solution.
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. Pdf an unusual case of fibrous dysplasia involving right craniofacial region in a female is reported. Eight patients who had polyostotic fibrous dysplasia were followed up for more than 10 years. Areas of healthy bone are replaced with this fibrous tissue.
Aug 04, 2016 fibrous dysplasia of maxilla mccune albright syndrome jameela 12. 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. They are somewhat technical and it may be useful to discuss them with your doctor. There are two forms of this medical condition which are. In pfd, fibrouslike tissues with immature osteogenesis replace the normal bone. Nov 01, 2014 polyostotic fibrous dysplasia this is a case report of polyostotic fibrous dysplasia fd in an 18yearold hispanic man referred to the authors institution for further evaluation of abnormal. Polyostotic fibrous dysplasia pfd is a nonhereditary congenital and benign disease of the bone. Gender prevalence of monostotic and polyostotic fibrous dysplasia is equal. Commonly found in persons aged 315yrs polyostotic disease persons asymptomatic before 10 years. Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. Any bone may be affected, the long bone, skull and.
Fibrous dysplasia is a skeletal disorder in which boneforming cells fail to mature and produce too much fibrous, or connective, tissue. Albright syndrome and polyostotic fibrous dysplasia. Monostotic disease persons asymptomatic as old as 2030 years. Polyostotic fibrous dysplasia pfd is caused by somatic activating mutations in the gnas gene in the skeletal stem cells. Pfd is associated with bone pain and fractures due to bone fragility. Fibrous dysplasia may arise as a single, discrete monostotic lesion or can occur with a more widespread distribution with multiple lesions that affect many bones oligo or. 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 may occur as part of a larger disorder. Fibrous dysplasia is fibrous replacement of bone tissue. 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 has a varied radiographic appearance. Fibrous dysplasia overview nih osteoporosis and related.
It can be monostotic, involving a single bone, or polyostotic, involving two or more bones. Fd is a rare, nonmalignant condition in which normal bone and marrow are replaced by fibrous tissue and randomly distributed woven bone, usually with pain, bony deformity, and pathologic fractures. Patients may exhibit involvement of one bone monostotic fd. Fibrous dysplasia fd is a benign intramedullary fibroosseous lesion. This leads to the proliferation of immature osteogenic cells and replacement of the normal bone marrow with a fibroosseous tissue. Treatment guidelines for fdmas fibrous dysplasia foundation. Fibrous dysplasia is a condition leading to abnormal differentiation of osteoblasts. Fibrous dysplasia may arise as a single, discrete monostotic lesion or can occur with a more widespread distribution with multiple lesions that affect many bones oligo or polyostotic. Features consistent of polyostotic fibrous dysplasia. Fibrous dysplasia fd is a benign bone disorder, in which normal bone structure is replaced by fibrous connective tissue. Clinical guidelines for the management of craniofacial fibrous.
Here, we are discussing two cases with monostotic fibrous dysplasia of maxilla with emphasis on. The most frequent sites of involve ment are the diaphyses and metaphyses of the long bones and the adjacent part of the shoulder and the pelvic bones. Fibrous dysplasia fd is a nonmalignant condition caused by. The lesions can result in deformity of the bones and fractures. This pictorial essay provides various imaging findings of fibrous dysplasia and examples of the underlying histopathology, gross intraoperative findings, and clinical characteristics. Polyostotic fibrous dysplasia article about polyostotic. Bone affected by this disorder is replaced by abnormal scarlike fibrous connective tissue. 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.
Till date he has suffered multiple fractures of both the hands and legs 8 times. The ratio of occurrence of polyostotic to monostotic fibrous dysplasia is 3. Last month, he again suffered multiple fractures in the left leg. The affected bone becomes enlarged, brittle and warped. Polyostotic fibrous dysplasia of maxillofacial region. 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. Mccunealbright syndrome includes polyostotic fibrous dysplasia as part of its presentation. Histologically proven the case reported that she had endocrinal abnormalities in form of disturbed menstrual cycle. In view of this i request you to kindly help this problem with some remedial. 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. The purpose of this study was to evaluate the longterm survival of bonegrafting procedures in subjects with polyostotic.
Learn vocabulary, terms, and more with flashcards, games, and other study tools. In 1938, lichtenstein first coined the term fibrous dysplasia fd. Jun 30, 2017 fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. Abnormalities may involve a single bone monostotic form. Synonyms for polyostotic fibrous dysplasia in free thesaurus. The replacement of normal bone in fibrous dysplasia can lead to pain, misshapen bones, and fracture, especially when it occurs in the long bones arms and legs. Fibrous dysplasia of maxilla mccune albright syndrome jameela 12.
Fibrous dysplasia, polyostotic, monostotic, bone grafting, bisphosphonates. 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. In polyostotic fibrous dysplasia, on the other hand, there are exten sive bone lesions in which overgrowth of bone, as well as bone destruction, is a prominent feature. Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. Albright syndrome, which usually corriprises polyostotic fibrous dysplasia, cutaneous pigmentation cafe au lait spots, and hyperfunction of one or more of the endocrine glands.
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