Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous café-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg.     

Congenital pseudoarthrosis associated with venous malformation

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation.     

Case report 578

This case emphasized that the differential diagnosis of osteofibrous dysplasia and adamantinoma of the tibia can be difficult on roentgengrams as well as on histological studies. A radiological and histological diagnosis of osteofibrous dysplasia of the tibia in a young adult should always raise the consideration of the possibility of an adamantinoma, and in the correlation of the radiological features with the biopsy findings it is very important to gain representative tissue material for establishing the correct diagnosis of adamantinoma.     

Proximal fibular growth deformities

Several congenital and acquired conditions may cause relative disparity between the length of the tibia and fibula, with alteration of the proximal tibiofibular joint and concomitant (or consequent) alteration of the distal tibiofibular relationships at both the malleoli and syndesmosis. Hypoplasia of the fibula may occur in association with neuromuscular disorders (e.g., poliomyelitis, arthrogryposis) or osteomyelitis, and is frequently accompanied by valgus deformity of the ankle because of proximal displacement of the lateral malleolus. The physes of the distal fibula and tibia may be level, rather than the fibular physis being adjacent to the tibial articular surface. Hyperplasia of the fibula may be associated with congenital subluxation or dislocation of the knee, various short stature syndromes (e.g., achondroplasia, spondyloepiphyseal dysplasia), and hypoplasia, or aplasia of the tibia. The increased mobility of the proximal tibiofibular joint during the first eight to ten years of growth appears to be a major factor tendering the proximal end of the fibula susceptible to displacement secondary to relative longitudinal growth variations between the fibula and tibia. Recognition of such disparities at the proximal tibiofibular joint, especially during roentgenography, should aleri the clinician to further evaluate possible accompanying deformity at the distal tibiofibular syndesmosis.     

Fibrous dysplasia vs adamantinoma of the tibia: differentiation based on discriminant analysis of clinical and plain film findings

Differentiation between benign fibrous dysplasia and malignant adamantinoma of the tibia is challenging because of the impact the diagnosis has on the choice of treatment (none or extensive surgery). The histologic and pathologic similarities of the lesions and the controversial relationship between fibrous dysplasia, osteofibrous dysplasia, and adamantinoma complicate the matter. We found a large overlap of histologic features in lesions considered either fibrous dysplasia or osteofibrous dysplasia on the basis of the radiologic findings. The purpose of this study was to determine the value of the plain radiograph of the lower leg in combination with clinical findings to differentiate the benign from the malignant condition. The clinical symptoms, radiographs, and histologic slides of 46 patients with fibrous dysplasia and 22 with adamantinoma in the tibia were reviewed retrospectively. In only one of 12 patients with radiologic or histologic characteristics of osteofibrous dysplasia were both radiologic and histologic criteria for the diagnosis present. A linear discriminant analysis was performed on six clinical (age, spontaneous pain, pain after trauma, swelling only, pain and swelling, and bowing deformity) and 25 radiologic signs. Fibrous dysplasia and its variant osteofibrous dysplasia could be identified correctly in 87% (40 of 46 patients) and adamantinoma in 95% (21 of 22 patients) by using the patient's age and four radiologic signs. When results from the discriminant analysis of a randomized subgroup of patients (32) were used on the other subgroup (36 patients), fibrous dysplasia was correctly identified in 84% (21 of 25) and adamantinoma in 82% (nine of 11). Fibrous dysplasia is more prevalent than adamantinoma in a young patient, when radiographs show a ground-glass appearance and anterior bowing and when there is no multilayered periosteal reaction and moth-eaten destruction. When radiologic signs and the patient's age are combined, fibrous dysplasia and adamantinoma can be discriminated in a high percentage of patients.     

Congenital transverse deficiency of the tibia and fibula: a report of two cases

We report two similar, but unrelated, patients with congenital bilateral partial deficiencies of the tibia and fibula associated with intact feet. In both patients, the tibia and fibula were absent on initial radiographs, while the femur and the tarsal bones were well developed and there was bilateral teratologic dislocation of the hips. Ultrasound and magnetic resonance imaging (MRI) studies suggested the presence of cartilaginous remnants of the tibia and fibula. There were multidirectional instabilities in the knees and ankles. The clinical and radiological features of these cases are distinct from those of congenital longitudinal deficiency of the tibia, in which the fibula is always preserved, and from longitudinal deficiency of the fibula, in which the tibia is present and the foot is usually involved. We suggest that the bilateral partial deficiencies of the tibia and fibula associated with the intact foot and teratologic dislocation of the hips is a single-entity disorder, possibly categorized as an intercalary transverse deficiency of the lower limb. Received: 5 October 1999 Revision requested: 10 November 1999 Revision received: 30 November 1999 Accepted: 1 December 1999     

Adamantinoma,osteofibrous dysplasia and differentiated adamantinoma

For just over 100 years, adamantinoma has been recognized as a primary bone tumor with epithelial characteristics and predominantly involving the tibia. Osteofibrous dysplasia is a fibro-osseous lesion also predominantly confined to the tibia with radiologic features similar to those of adamantinoma. This lesion has been shown by immunohistochemical studies to frequently contain cytokeratin-positive epithelial cells. More recently, a third group of cases with clinical and radiologic features similar to those of osteofibrous dysplasia have demonstrated more overt strands of epithelial cells within a fibro-osseous background and have been categorized as "differentiated", "regressive", "juvenile intracortical" or "osteofibrous dysplasia-like" adamantinoma. Cytokeratin subset immunohistochemical stains and cytogenetic studies performed in recent years suggest a common histogenesis for these three entities. This article reviews the clinical, radiologic and pathologic features of these entities as well as their prognostic significance. It also reviews the results of the immunohistochemical and cytogenetic studies which establish a common histogenetic relationship.     

Case report 660

An adamantinoma of the tibia is presented, for which the CT and MRI characteristics are described. Both imaging modalities were excellent in providing information as to the extent and invasiveness of the tumor, although MRI had the advantage of providing immediate high quality sagittal visualization. Comparison is made briefly between adamantinoma and both fibrous dysplasia and osteofibrous dysplasia.     

婴儿骨性纤维结构不良的影像表现

目的探讨婴儿骨性纤维结构不良（OFD）的影像学表现,为提高临床对婴儿OFD的诊断水平,为避免临床治疗失误及降低该病变复发率提供客观依据。方法回顾性分析自2009年1月至2013年9月经病理证实的3例OFD患者影像学检查图像,其中男性2例,女性1例,月龄1-5月,平均3月。3例患者均行X线检查,其中2例做行CT检查。结果 X线片显示3例患者病变均累及胫骨前缘,表现为胫骨局部膨大、胫骨弯曲变形及病变区骨皮质变薄,与正常骨组织分界清楚,其中1例合并病理性骨折。结论婴儿OFD有典型影像学表现,X线对婴儿骨性纤维结构不良的临床诊断有较强的指导价值。     

A case of congenital syphilis

We report a case of an asymptomatic 3-month-old girl presenting to the emergency department with concern for congenital syphilis. Radiographs of the lower limbs demonstrate mild diffuse periosteal reaction involving the femur, tibia, and fibula and bilaterally symmetric lucencies and erosions of the medial proximal tibial metaphysis (Wimberger’s sign).     

Classic adamantinoma in a 3-year-old

Classic adamantinoma of the long bones is a rare, low-grade malignant neoplasm arising most often in the tibia and usually in patients during the second to fifth decades. Although adamantinomas have been described in children, the histologic pattern in this age group is different from that seen in adults and resembles osteofibrous dysplasia. The usual pattern of adamantinoma in children has been termed “differentiated adamantinoma” and follows a benign course. We report a case of adamantinoma in the proximal tibia of a 3-year-old patient. The lesion had abundant epithelial component with formation of keratin pearls, a pattern that has been described only in classic adamantinoma occurring in adults. Since differentiated adamantinomas are essentialy benign and classic adamantinomas are low-grade malignancies, the finding of a classic variant at this young age raised important therapeutic and prognostic issues.     

Cortical lesions of the tibia: characteristic appearances at conventional radiography.

Lesions that involve the cortex of the tibia are fairly common in radiology practice. However, the number of diseases that involve the tibial cortex is great, and it can be difficult to arrive at a limited differential diagnosis from radiographic findings. Categorization of lesions of the tibia into those that cause cortical destruction and those that cause cortical proliferation can help narrow the broad differential diagnosis. Lesions that cause cortical destruction include nonossifying fibroma, fibrous dysplasia, osteofibrous dysplasia, aneurysmal bone cyst, giant cell tumor, eosinophilic granuloma, Ewing sarcoma, neurofibromatosis, adamantinoma, osteoblastoma, chondromyxoid fibroma, hemangioendothelioma, renal cell metastatic disease, hemangioma, and hemangiopericytoma. Lesions that cause cortical proliferation include osteochondroma, stress fracture, osteoid osteoma, periosteal osteogenic sarcoma, diaphyseal dysplasia, venous stasis, cellulitis, chronic osteomyelitis, osteopathia striatum, and melorheostosis. Conventional radiography along with clinical and pathologic data can aid in diagnosis of the wide variety of disease processes that involve the tibial cortex. Copyright RSNA, 2003.     

Das kindliche Sprunggelenk Deformitäten, Mißbildungen und klinische Normvarianten

The ankle joint unites high functionality with high load on a small surface. Congenital as well as acquired variations lead to a derangement of the complex concerted action of tendons, ligaments and joints. This causes dysfunction and the development of typical deformities. It is necessary to discriminate physiological variants, congenital, posttraumatic and tumoral variations for the differential diagnosis. In most instances this is only possible with the aid of radiological clarification. Congenital malformations in the region of the upper and lower ankle joint are generally rare. One disease is club foot, with malposition and deformity in the upper and lower ankle joint. Extreme malposition can also be found in talus verticalis and congenital hypoplasias and aplasias of fibula and tibia. A rather frequently found disease, which first occurs in the adolescence, is osteochondrosis dissecans.     

Tibia and fibula fractures in soccer players

We performed a retrospective review of 31 athletes who sustained a fracture of the lower leg from a direct blow while playing soccer. Fifteen fractures involved both the tibia and fibula, 11 only the tibia, and 5 only the fibula. Information was collected using a standardized questionnaire. The mean follow-up from the time of injury was 30 months. Injuries typically occurred in young, competitive athletes during game situations. The mechanisms were broadly classified into several categories: contact during a slide tackle (13, 42%), a collision with the goalkeeper (8, 26%), two opposing players colliding while swinging for a loose ball (7, 23%), or a player being kicked by a standing opponent (3, 10%). The majority of fractures (26, 90%) occurred while the athletes were wearing shin guards. The point of impact was with the shin guard prior to the fracture in 16 cases (62%). Return to competitive soccer averaged 40 weeks for combined tibia and fibula fractures, 35 weeks for isolated tibia fractures, and 18 weeks for isolated fibula fractures. Injuries were associated with a high incidence of major complications (12 out of 31, 39%), especially in concurrent tibia and fibula fractures (8 out of 15, 50%). These findings suggest that lower leg fractures in soccer players are serious injuries, often necessitating a prolonged recovery time. In addition, this study questions the ability of shin guards to protect against fractures. Received: 1 March 1998 Accepted: 10 August 1998     

Fibular Hemimelia: More Than Just An Absent Bone

Fibular hemimelia is a congenital deficiency or absence of the fibula. There is a spectrum of disease from mild fibular hypoplasia to fibular aplasia. The ipsilateral tibia may be hypoplastic, bowed or normal. Fibular hemimelia can be an isolated deformity of the lower leg but frequently it is associated with proximal focal femoral deficiency, deficiencies of the lateral aspect of the foot, or is part of a malformation syndrome. In this article, we review the embryology of the extremities, discuss proposed etiologies for fibular hemimelia, highlight associated abnormalities, and present the radiographic and imaging findings. Surgical treatment options and long-term outcomes are discussed.     

A clinicopathological and immunohistochemical study of osteofibrous dysplasia,differentiated adamantinoma,and adamantinoma of long bones

A clinicopathological and immunohistochemical study of 12 cases of osteofibrous dysplasia (OFD), two cases of differentiated adamantinoma, and five cases of adamantinoma of long bones is presented. Although OFD and differentiated adamantinoma showed similar radiologic findings, differentiated adamantinoma was more likely to be a recurrent lesion than osteofibrous dysplasia and seemed to require a more extensive surgical procedure. Immunohistochemically, cytokeratin- and vimentin-positive cells were seen in both OFD and differentiated adamantinoma. The positive cells were scattered in the former, and were both scattered and nest-like in the latter. Both these lesions, however, were negative for epithelial membrane antigen. Excluding two cases of Ewing-like adamantinoma, the other three cases of adamantinoma were also positive for cytokeratin and vimentin. These results suggest that these three lesions share the same histogenetic origin. The two cases of Ewing-like adamantinoma differ from tibial adamantinoma in their radiological, histological and immunohistochemical aspects, and seem to constitute a distinct variant of adamantinoma with a different histogenesis.     

Differentiated adamantinoma of the fibula: a rhabdoid variant

A benign- appearing osteolytic lesion surrounded by a sclerotic rim was found in the upper fibula of a 25-year-old man. Based on histological features the definitive diagnosis of osteofibrous dysplasia–differentiated adamantinoma was made. The correct histological diagnosis of differentiated adamantinoma depends on factors such as the uniform predominance of an osteofibrous dysplasia-like pattern, and scattered epithelial elements positive for cytokeratin and vimentin. In this case the scattered epithelial cells had abundant eosinophilic cytoplasm and resembled rhabdoid elements, but immunohistochemistry proved their epithelial origin.Presented at the Closed Meeting of the International Skeletal Society in Barcelona, Spain, September 2000.     

Congenital pseudarthrosis of the radius.

Five children with six congenital pseudarthroses of the long bones of the forearm are described. Four cases were the result of neurofibromatosis, one was related to fibrous dysplasia, and one appears to be idiopathic. Whereas congenital pseudarthrosis of the leg primarily involves the tibia, congenital pseudarthrosis of the forearm primarily involves the radius. Four of the children were treated with bone grafts of the radius, three requiring repeated grafting. The etiology, differential diagnosis, long term prognosis, and treatment correlate with the data of similar lesions in the tibia. Thus the reason for poor fusion is probably unrelated to weight bearing but is rather the result of underlying bone pathology.     

Ipsilateral fibular transfer for a large tibial defect caused by a gunshot injury: case report

Segmental bony defects in open fractures of the tibia are bridged with bone grafting, free vascularized fibular grafts, or an external ring fixator. A 33-year-old man sustained a gunshot injury to his left leg, resulting in Gustillo type IIIB open fractures of the tibia and fibula. The tibia had a segmental massive defect of 19 cm in the midshaft. Debridement and immediate application of an Ilizarov external fixator were performed. The midportion of the ipsilateral fractured fibula served as a bridging vascularized graft for the tibial defect. Good bony union and fibular hypertrophy were obtained. Use of a fractured fibula from a zone previously injured by a gunshot has not been reported. This case demonstrates the successful transfer of a fractured fibula for the bridging of an ipsilateral tibial defect caused by a gunshot injury.     

成骨不全:特殊表现

目的：观察成骨不全的特殊表现,探讨其形成机制和预后。材料与方法：对６８例成骨不全的临床与Ｘ线片资料进行回顾性分析。结果：本组成骨不全中,２３例有特殊表现,包括：（１）正常骺板变模湖或消失,骨骺、干骺区出现爆玉米花样钙化;（２）干骺端外展、增宽,骨骺见有多囊状透光区;（３）骨干不规则增粗,骨骺和干骺被粗大的骨小梁交织为蜂房状;（４）尺－桡或胫－腓骨间膜粘连、增生和骨化;（５）并行两长管骨之一的游离侧