Albright syndrome and polyostotic fibrous dysplasia. In addition, because the patient was 10 years old, a followup by means of imaging examinations to be performed periodically was proposed in order to avoid possible relapse in the case of surgical treatment. It may involve one bone or multiple bones polyostotic. Mccunealbright syndrome includes polyostotic fibrous dysplasia as part of its presentation. To report the case of a patient with polyostotic fibrous dysplasia of the cranium who showed dramatic improvement after treatment with intravenous zoledronic acid. Fibrous dysplasia is a disease that causes growths or lesions in one or more bones of the human body. Fibrous dysplasia is a mosaic disease resulting from postzygotic activating mutations of the gnas locus at 20q. Department of orthopaedics, eras lucknow medical college, lucknow, india tel. First, monostotic type involves one bone and the second, polyostotic type that involves more than one bone. Aug 04, 2016 fibrous dysplasia of maxilla mccune albright syndrome jameela 12.
The criteria for the diagnosis of fibrous dysplasia are discussed. The rarity of the disease and its variable presentation to multiple specialities often leads to. There are two forms of this medical condition which are. The disease may present in a monostotic or polyostotic form, affecting one or multiple bones, respectively. Symptomatic polyostotic fibrous dysplasia of the thoracic spine. Malignant sarcomatous transformation of fibrous dysplasia. Fibrous dysplasia presents in monostotic and polyostotic forms.
More recent studies report that polyostotic fibrous dysplasia and cafeaulait macules are invariably present, while monostotic lesions are less common 3. The proximal third of the femur is a common location for fibrous dysplasia. Delivery was accomplished vaginally without damage to the architecture of the pelvis. It arises from postzygotic gainoffunction mutations in the gnas gene, which encodes the. 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. He is the principal investigator on several clinical studies of patients with pfdmas, and is a globally recognized expert on fdmas. Polyostotic bone lesions in adults radiology reference. By early adolescence, patients with widespread polyostotic fibrous dysplasia may have severe deformities.
Surgical treatment of polyostotic craniomaxillofacial fibrous dysplasia in adult. Ap plain xray of fibrous dysplasia of the right shoulder showing an expanded lytic lesion involving the spine of the scapula. It affects only one bone and most often occurs in the ribs, thigh bone, shin bone, or one of the facial bones. It may involve one bone monostotic or multiple bones polyostotic. Imaging findings of fibrous dysplasia with histopathologic. Polyostotic fibrous dysplasia pfd is caused by somatic activating mutations in the gnas gene in the skeletal stem cells. The more common monostotic form affects one bone and accounts for.
Learn vocabulary, terms, and more with flashcards, games, and other study tools. 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. Best practice management guidelines for fibrous dysplasia. Ocular complications in craniofacial fibrous dysplasia. Parekh, md, mba, rakesh donthinenirao, md, eric ricchetti, md, and richard d. The lesions can result in deformity of the bones and fractures pfd may be mono or polyostotic. We present a case of a 30yearold female patient, with a 1year. The appearance of new lesions and enlargement of preexisting ones after puberty was not uncommon. This page from great ormond street hospital gosh explains the causes, symptoms and treatment of fibrous dysplasia. Management of thetemporal bone fibrous the authors. Jun 30, 2017 fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue.
Fibrous dysplasia overview nih osteoporosis and related. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. In 1942, lichtenstein and jaffe,10 having recognized the identity of solitary and monostotic le sions with those of the disseminated form, further described the bone pathology and preferred the term fibrous dysplasia to in clude all degrees of the disorder. The mechanism of occurrence of abc with fibrous dysplasia is not known but it may. 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.
Links to pubmed are also available for selected references. Bone affected by this disorder is replaced by abnormal scarlike fibrous connective tissue. Commonly found in persons aged 315yrs polyostotic disease persons asymptomatic before 10 years. Polyostotic form of fibrous dysplasia can exist clinically in different forms depending on its coexistences with skin pigmentation and. Fibrous dysplasia polyostotic free download as powerpoint presentation. Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue.
Cmf fibrous dysplasia often occurs as the polyostotic type, with more than 50% onset in cmf region reported in previous studies. Polyostotic fibrous dysplasia mccunealbright syndrome. Fibrous dysplasia, polyostotic, monostotic, bone grafting, bisphosphonates. Axial ct reconstruction of the shoulder illustrates a lytic lesion of the right scapula consistent with fibrous dysplasia. 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. Pelvic bone was affected in the polyostotic type, similar to. As children grow, affected bone may become misshapen dysplastic.
The replacement of normal bone in fibrous dysplasia can lead to pain, misshapen bones, and fracture, especially when it occurs in the long bones. Mccunealbright syndrome includes polyostotic fibrous dysplasia as. Instead of maturing into solid bone, affected bones stay at the immature fibrous stage so are weak and misshapen. Pdf symptomatic polyostotic fibrous dysplasia of the. Fibrous dysplasia of the skull with progressive cranial nerve involvement. Two of the classic abnormalities were present, namely, unilateral cystic changes within the skeleton, and associated unilateral pigmentation in the skin. 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. The major skeletal effect of fibrous dysplasia is to weaken the structural integrity of this area. Polyostotic fibrous dysplasia pfd is a nonhereditary congenital and benign disease of the bone.
This leads to the proliferation of immature osteogenic cells and replacement of the normal bone marrow with a fibroosseous tissue. Fibrous dysplasia fd is a benign fibroosseous pathologic condition characterized by the replacement of bone with fibrous tissue 1,2. Fibrous dysplasia, polyostotic fibrous dysplasia, imaging findings. Bisphosphonate treatment in polyostotic fibrous dysplasia. In pfd, fibrouslike tissues with immature osteogenesis replace the normal bone. Monostotic presentation is more frequent, and lesions enlarge in proportion to skeletal growth14. Fibrous dysplasia fd is an uncommon benign disorder with unknown etiology, although variety causative factors explained. The natural history of fibrous dysplasia depends on the form in which the lesions presents. Fibrous dysplasia genetic and rare diseases information. Primarily affecting adolescents and young adults, it accounts for 7% of benign bone tumors. The polyostotic form is rarer and mainly occurring in long bones 610 and possibly associated with mccunealbright syndrome, which is characterised by the presence of coffeemilk cutaneous pigmentation and endocrinopathy 6 1016 world j surg.
Lackman, md abstract fibrous dysplasia is a developmental disorder of bone that can present in a monostotic or polyostotic form. Fibrous dysplasia occurring in only one location monostotic form is approximately six times more common than fibrous dysplasia occurring in multiple locations polyostotic form. Polyostotic fibrous dysplasia definition of polyostotic. Polyostotic fibrous dysplasia with this type it affects several bones and is often associated with mccunealbright syndrome, which is a genetic. Common causes of polyostotic bone lesions in adults include. Monostotic fibrous dysplasia with this type only one bone is affected and accounts for approximately seventy percent of all cases of fibrous dysplasia.
The pdf of the article you requested follows this cover page. Fibrous dysplasia nord national organization for rare. Monostotic fibrous dysplasia is the least complicated type of fibrous dysplasia. 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. In addition to fibrous dysplasia this syndrome may also lead to early puberty and skin. Cr,tc,mri any information contained in this pdf file is automatically generated from digital material submitted to epos by third parties in the form of scientific presentations. 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. The polyostotic form of fibrous dysplasia may involve many or few bones, most commonly the skull and facial bones, pelvis, spine fig. The lesion is firstly described by lichtenstein 3 in 1938. 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 a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. The affected bone becomes enlarged, brittle and warped.
The classic appearance of fibrous dysplasia is a welldefined, lucent lesion with a groundglass matrix fig. Fibrous dysplasia treatment, symptoms, causes, pictures. Fibrous dysplasia is a developmental disorder of bone that can present in a monostotic or polyostotic form. Fibrous dysplasia fd is a benign skeletal lesion occurring due to mutation of gs. Fd is a benign fibroosseous lesion in which normal bone is replaced by a proliferation of fibrous connective tissue and immature osseous tissue. Fibrous dysplasia is a congenital present at birth condition that affects bone growth and development. In 1938, lichtenstein first coined the term fibrous dysplasia fd. In all three cases, the diagnosis was confirmed based on histopathological findings. Pdf fibrous dysplasia is a developmental dysplastic disorder of bone in which the normal bone matrix is replaced by fibroblastic proliferation.
Areas of healthy bone are replaced with this fibrous tissue. Treatment of fibrous dysplasia involving the proximal femur. These mutations disrupt the intrinsic gtpase activity of g s. Polyostotic fibrous dysplasia is often unilateral, sometimes showing a monomelic pattern. Pfd is associated with bone pain and fractures due to bone fragility. Fd is a bone developmental anomaly characterized by replacement of normal bone and marrow bone by fibrous tissue. It involves any of the bones as single lesion monostotic or in multiple bone lesions polyostotic or all of the skeletal system panostotic.
Get a printable copy pdf file of the complete article 1. These 28 cases included 16 mayo clinic cases and 12 consultation cases. 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. Get a printable copy pdf file of the complete article 828k, or click on a page image below to browse page by page. Full text full text is available as a scanned copy of the original print version. There were 4 polyostotic cases including 2 cases of mccunealbright syndrome. Fibrous dysplasia is an uncommon bone disorder in which scarlike fibrous tissue develops in place of normal bone. Fibrous dysplasia and vision loss polyostotic fibrous dysplasia.
A genetic disorder that is characterized by polyostotic fibrous dysplasia along with skin pigmentation and hormonal problems, with premature sexual development. The primary focus of his research is polyostotic fibrous dysplasia pfd and the mccunealbright syndrome mas. Polyostotic craniofacial fibrous dysplasia with bizarre. This abnormal fibrous tissue weakens the bone, making it abnormally fragile and prone to fracture. This is an enhanced pdf from the journal of bone and joint surgery j bone joint surg am. Multiple osteotomies with zickel nail fixation for polyostotic fibrous dysplasia involving the proximal part of the femur. Best practice management guidelines for fibrous dysplasiamccune. Medical and scientific advisors fibrous dysplasia foundation. A second case of polyostotic fibrous dysplasia in pregnancy has been reported. Fibrous dysplasia support groups online dailystrength. In most cases, fibrous dysplasia occurs at a single site in one bone, but can occur at multiple sites in multiple bones.
Useful for identify multiple lesions polyostotic form fig. 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. Polyostotic fibrous dysplasia synonyms, polyostotic fibrous. The remaining three cases were monostotic, although radical excision would have been difficult as the facial bones were diffi. Fibrous dysplasia mccune albright syndrome fdmas represents a wide spectrum of diseases due to somatic gainoffunction mutations of the gnas gene. Useful for identify multiple lesionspolyostotic form fig. Synonyms for polyostotic fibrous dysplasia in free thesaurus. Collins served as chair of the medical advisory council from 20042018, and continues to play. A longterm followup study of thirtyseven cases of polyostotic fibrous dysplasia and thirteen cases of monostotic fibrous dysplasia is presented. Polyostotic fibrous dysplasia article about polyostotic. Fibrous dysplasia is a condition that causes abnormal growth or swelling of bone.
Polyostotic fibrous dysplasia is a rare benign pathological condition of bone in which proliferation of fibrous and osteoid elements results in expansile deformities of the skeleton. Rb stephenson, md london, fm hankin and h kaufer fibrous dysplasia. Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. Among 1122 cases with a histologic diagnosis of fibrous dysplasia, 28 cases of sarcoma were found. Fibrous dysplasia has a varied radiographic appearance.
Polyostotic fibrous dysplasia has a wide clinical spectrum, with substantial variation between patients in terms of orthopaedic manifestations, including the number of fractures, the degree of. Fibrous dysplasia fd is a benign intramedullary fibroosseous lesion. 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. We report a case of polyostotic fibrous dysplasia in a 26yearold lady showing the. The evolution of the skeletal lesions was studied by serial roentgenograms.
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