Serie de Casos Clínicos: Displasia Osteofibrosa Craneofacial. Resolución Quirúrgica / Case Series: Craniofacial Fibrous Dysplasia. Surgical Treatment

INTRODUCCIÓN: La Displasia Fibrosa Ósea Craneofacial es una lesión ósea benigna en la que se da una sustitución de tejido óseo normal por tejido fibro-óseo. Desarrollada a partir de una mutación genética. Subordinada en variantes: monostósica y polistósica. Escasos casos son reportados sobre malignización de la patología. El Diagnóstico se realiza con la sospecha clínica y se confirma mediante exámenes de imagen y anatomopatológicos. CASO CLÍNICO: El presente trabajo presenta una serie de tres casos diagnosticados de Displasia Osteofibrosa Craneofacial en el Hospital José Carrasco Arteaga y Hospital del Río, Cuenca-Ecuador, en los que por el cuadro clínico de los pacientes se decidió tratamiento quirúrgico. EVOLUCIÓN: En todos los casos, la evolución fue favorable. Se logró resultados positivos, reducción de síntomas y mejoría estética general en todos los casos. CONCLUSIÓN: Se obtienen mejores resultados con los tratamientos quirúrgicos actuales (remodelado más congelamiento óseo), entre ellos: buenos resultados estéticos, mejor calidad de vida, menor riesgo de infecciones. En el presente trabajo los tres participantes sometidos a resolución quirúrgica señalaron que el tratamiento reflejó positivamente en el ámbito funcional, estético y emocional. (au)

BACKGROUND: Craniofacial Bone Fibrous Dysplasia is a benign bone lesion where normal bone tissue is replaced with fibrous tissue. Developed from a genetic mutation. Subordinated in variants: monostotic and polyistotic. Few cases are reported on malignancy of the pathology. The diagnosis is determined with clinical suspicion and confirmed by imaging and pathology tests. CASE REPORT: In this paper, we present a series of three cases diagnosed with Craniofacial Fibrous Dysplasia at José Carrasco Arteaga Hospital and Hospital del Río, Cuenca-Ecuador. All of patients were treated with surgery, because of the clinical features. EVOLUTION: In all the cases, the patient evolution was favorable. Reduction of symptoms and general aesthetic improvement were achieved in all cases. CONCLUSION: Better results are obtained with the current surgical treatments (bone remodeling plus bone freezing), among them: good aesthetic results, better quality of life, lower risk of infections. In the present paper, the three patients treated with the surgical procedure indicated that the treatment reflected positively in the functional, aesthetic and emotional aspects.(au)

Fibrous Dysplasia treated with virtual planning ­ report of two cases

Fibrous dysplasia (FD) is part of a rare group of bone dysplasia. It exhibits benign behavior and can lead to osteolytic lesions, deformities, and fractures. The treatment is challenging, and accurate removal of the lesion is necessary to restore function and esthetics. Here we present two cases of FD where virtual planning with presurgical computed tomography (CT) was used for the production of a surgical guide for bone contouring. First, CT image reconstruction was performed to mirror the patient's original anatomy. Then, three surgical guides that determined the area and depth of bone wear were prepared and used in the relevant sequence during the actual surgeries, which were successfully performed in both patients. This technique is termed the template guide holes (TGH) technique. The findings from this report suggest that presurgical virtual planning and guide preparation allows direct and objective measurement of the level of bone wear and improves the functional and esthetic outcomes of surgery for FD. In particular, the TGH technique is safe and allows adequate preoperative surgical simulation, reduces the surgical duration, and increases the predictability of the final result.

Displasia fibrosa ósea / Fibrous dysplasia of bone

La displasia fibrosa ósea es un trastorno no hereditario del desarrollo esquelético caracterizado por una proliferación anormal de fibroblastos y diferenciación deficiente de osteoblastos que conduce a un reemplazo del tejido óseo esponjoso por tejido conectivo fibroso. Es producida por una mutación somática activadora del gen GNAS1 que induce una activación y proliferación de células mesenquimales indiferenciadas con formación de tejido fibroso y trabéculas óseas anómalas. Existen formas monostóticas, poliostóticas y craneofaciales con diversos grados de dolor, deformidades y fracturas óseas, aunque muchos casos son asintomáticos. En ocasiones se producen quistes óseos aneurismáticos, hemorragias, compromisos neurológicos y raramente osteosarcomas. Algunos casos se asocian a síndrome de McCune-Albright, síndrome de Mazabraud y a osteomalacia por hipofosfatemia por pérdida tubular renal inducida por el FGF23 producido por el tejido displásico. Los hallazgos en las radiografías convencionales son característicos, aunque variables y de carácter evolutivo. La gammagrafía ósea es la técnica de imagen con mayor sensibilidad para determinar la extensión de la enfermedad. El diagnóstico diferencial incluye múltiples lesiones óseas de características similares y en raras ocasiones se requiere biopsia ósea o estudio genético para confirmarlo. No existe un consenso unánime acerca del abordaje terapéutico de estos pacientes, razón por la cual es necesario un enfoque multidisciplinario. La conducta puede ser expectante o quirúrgica según el tipo de lesiones y es importante el manejo del dolor y de las endocrinopatías asociadas. La mayor experiencia publicada se refiere al uso de bifosfonatos y, más recientemente, denosumab. Los tratamientos actuales son insuficientes para modificar el curso de la enfermedad y es necesario el desarrollo de nuevas moléculas que actúen específicamente en el gen GNAS1 o sobre las células mesenquimales afectadas. (AU)

Fibrous dysplasia of bone is a noninherited developmental anomaly of bone characterized by abnormal proliferation of fibroblasts and differentiation of osteoblasts that cause a replacement of trabeculous bone by fibrous connective tissue. It is caused by a somatic mutation in the GNAS1 gene, which induces an undifferentiated mesenquimal cells activation and proliferation with formation of fibrous tissue and abnormal osseous trabeculae. There are monostotic, polyostotic and craniofacial variants with different grades of bone pain, deformities and fractures, although many cases remain asymptomatic. Aneurysmal bone cysts, bleeding, neurological compromise and infrequently osteosarcoma are possible complications. Some cases are associated to McCune-Albright syndrome, Mazabraud syndrome or hypophosphatemia and osteomalacia due to to renal tubular loss induced by FGF23 produced by dysplastic tissue. The findings on conventional radiography are characteristic although variable and evlolve with time. Bone scintigraphy is the most sensitive technique to evaluate the extent of disease. Differential diagnosis include several osseous lesions of similar appearance and, in some cases, bone biopsy or genetic testing may be necessary. Today, there is no consensus regarding the therapeutic approach for these patients and it is necessary a multidisciplinary medical team. Watchful waiting or surgical interventions can be indicated, depending on the type of bone lesions. Bone pain and associated endocrinopathies management are very important. Most published experience refers to the use of bisphosphonates and, more recently, denosumab. Current treatments are insufficient to modify the natural curse of the disease and therefore, new molecules with specific action on GNAS1 gene or affected mesenchymal cells are necessary. (AU)

Abordagem cirúrgica no tratamento da displasia fibrosa craniofacial- experiência de 14 anos / Surgical approach to the treatment of craniofacial fibrous dysplasia - A 14-year experiencedysplasia - 14 years experience

INTRODUÇÃO: Dentre os tumores benignos do esqueleto craniofacial, a displasia fibrosa caracteriza-se pelo crescimento progressivo e acometimento de jovens, acarretando deformidade funcional e estética. Esse trabalho analisa aspectos clínicos e prognósticos de pacientes com essa patologia, submetidos a tratamento cirúrgico. MÉTODOS: Análise retrospectiva de 19 pacientes com displasia fibrosa craniofacial, acompanhados de janeiro de 1997 a dezembro de 2011, tratados com remodelamento ósseo e ressecção cirúrgica. Revisão da literatura sobre. RESULTADOS: A distribuição etária variou de 8 a 65 anos, com média de 21,75 anos. Dez pacientes (52,7%) eram do sexo feminino. A forma poliostótica predominou, com 15 casos (78,9%). Entre os ossos acometidos destacaram-se esfenóide, etmóide e frontal, nas formas poliostóticas; e maxila e zigoma, nas monostóticas. A principal queixa foi de assimetria da face. Um paciente evoluiu com diminuição de acuidade visual. O tratamento baseou-se na ressecção cirúrgica e reconstrução com enxerto, quando doença localizada, e no desgaste e remodelamento ósseo, em formas poliostóticas. Em apenas um caso (5,2%), com compressão de nervo óptico, foi necessário acesso intracraniano. Reabordagem cirúrgica, por crescimento tumoral, foi necessária em três pacientes. Como complicações, tivemos um caso de lagoftalmo e epicanto no pós-operatório de paciente tratado por cirurgia com acesso infraorbitário. Ausência de outras intercorrências no seguimento a curto e longo prazo. Os resultados de preservação de função e recuperação de contorno facial foram satisfatórios. CONCLUSÃO: Essa experiência, em concordância com a literatura, permite concluir que a cirurgia é eficaz na abordagem de casos selecionados de displasia fibrosa craniofacial.

INTRODUCTION: Fibrous dysplasia is benign tumor of the craniofacial skeleton that primarily affects young patients. It is characterized by the progressive growth of benign fibrous tumors with resulting functional and aesthetic deformities. This study assesses the clinical and prognostic features in patients with fibrous dysplasia who underwent surgical treatment at our institution. METHODS: Retrospective analysis of 19 patients with craniofacial fibrous dysplasia, treated between January 1997 and December 2011 with bone remodeling and surgical resection. We also review the literature regarding fibrous dysplasia. RESULTS: Patients ranged between 8-65 years old, with a mean age of 21.75 years. Ten patients (52.7%) were women. The polyostotic form was predominant and present in15 cases (78.9%). The sphenoid, ethmoid, and frontal bones were most commonly involved in the polyostotic form and the mandibular and zygomatic bones were most commonly involved in the monostotic form. The main complaint was asymmetry of the face. One patient developed decreased visual acuity. Treatment was based on surgical resection and graft reconstruction in the localized form of the disease, and bone abrasion and remodeling in the polyostotic form. Intracranial access was necessary in only one case (5.2%) where the optic nerve was compressed. Repeat surgical treatment due to recurrent tumor growth was necessary in three patients. The only complication occurred in a patient who developed lagophthalmos and epicanthus postoperatively after undergoing surgery using infraorbital access. No other complications occurred during short- and long-term follow-up. Functional preservation and facial contour recovery outcomes were satisfactory. CONCLUSION: Our experience, along with that of other investigators, demonstrates that surgery is effective in treating selected cases of craniofacial fibrous dysplasia.

Fibroma cemento-ossificante sintomático: relato de caso clínico / Symptomatic cemento-ossifying fibroma: case report

As lesões fibro-ósseas constituem um grupo de patologias caracterizadas pela substituição de tecido ósseo normal por tecido fibroso benigno contendo quantidades variadas de material mineralizado. A displasia fibrosa, o fibroma cemento-ossificante e a displasia cemento-óssea são as mais frequentes. Na literatura, a classificação e a terminologia das lesões fibro-ósseas apresentam-se ainda confusas e controversas, pois essas patologias exibem, frequentemente, características clínicas e morfológicas muito semelhantes. O fibroma cemento-ossificante é uma neoplasia benigna que faz parte do grupo das lesões fibro-ósseas. Caracteriza-se por crescimento bem delimitado e eventualmente encapsulado, apresentando quantidades variáveis de tecido mineralizado semelhante ao osso e ao cemento. São lesões incomuns, que tendem a ocorrer durante a terceira e a quarta décadas de vida, com uma predileção pelo gênero feminino, sendo a mandíbula o sítio de maior ocorrência. Este trabalho tem por objetivo descrever e discutir um caso clínico-cirúrgico sintomático de fibroma cemento-ossificante.

Fibro-osseous lesions are a group of diseases characterized by replacement of normal bone tissue for benign fibrous tissue containing different amounts of mineralized material. The most frequent lesions are fibrous dysplasia, cemento-ossifying fibroma and cemento-osseous dysplasia. In the literature, classification and terminology of these entities remain confusing and controversial, since these lesions show some clinical and morphologic similarities. Cemento-ossifying fibroma is a benign neoplasia that belongs to the group of fibro-osseous lesions. It is characterized by well delimited growth and occasionally is encapsulated, presenting changeable amounts of mineralized tissue similar to the bone and cementum. They are uncommon lesions that tend to occur during the 3rd and 4th decades of life, mainly in females and preferentially in the mandible. The aim of this work is to describe and discuss a clinical surgical case of symptomatic cemento-ossifying fibroma.