Displasia fibrosa monostótica craneofacial / Craniofacial monostotic fibrous dysplasia

La displasia fibrosa es una enfermedad benigna del hueso, de base genética y de progresión lenta, que se caracteriza por el reemplazo progresivo del hueso normal por tejido fibrótico. El proceso puede afectar un solo hueso o múltiples huesos (displasia fibrosa monostótica o poliostótica); esta última puede estar asociada con enfermedades sindrómicas, como el síndrome de McCune-Albright. Objetivo: revisar el diagnóstico y tratamiento de los pacientes con displasia fibrosa craneofacial. Materiales y métodos: se realizó una revisión de artículos científicos en revistas indexadas en línea como técnica para la recolección de información relevante en bases de datos como SciELO, Google Académico, Scopus, PubMed y DynaMed, con artículos publicados en inglés y español. El período de revisión tuvo como límite el 1 de junio de 2020. Los términos de búsqueda fueron: "displasia fibrosa", "displasia fibrosa monostótica" y "displasia fibrosa craneofacial". Se obtuvieron 33 artículos. Conclusión: la displasia fibrosa monostótica craneofacial es una enfermedad rara que afecta principalmente la mandíbula, el hueso maxilar y el cornete inferior. Puede cursar asintomática o presentar deformidades faciales, dolor y trastornos visuales. Su diagnóstico es principalmente por estudios de imágenes y la biopsia. El tratamiento quirúrgico debe ser bien planeado en cada uno de los pacientes y enfocado a deformidades faciales, se deben evitar los trastornos visuales y es necesario cuando se maligniza la lesión.

Fibrous dysplasia is a slowly progressive, genetically based, benign bone disease characterized by progressive replacement of normal bone with fibrotic tissue. The process can affect a single bone or multiple bones (monostotic or polyostotic fibrous dysplasia); the latter may be associated with syndromic diseases, such as McCune-Albright syndrome. Objective to review the diagnosis and treatment of patients with fibrous craniofacial dysplasia. Materials and methods a review of scientific articles was carried out in online indexed journals as a technique for collecting relevant information in databases such as SciELO, Google Scholar, Scopus, PubMed, and DynaMed, with articles published in English and Spanish. The review period was limited to June 1, 2020. The search terms were: "fibrous dysplasia", "monostotic fibrous dysplasia", and "craniofacial fibrous dysplasia". Obtaining 33 articles. Conclusion craniofacial monostotic fibrous dysplasia is a rare disease, mainly affecting the mandible, the maxillary bone, and the inferior turbinate. It can be asymptomatic or present facial deformities, pain and visual disorders. Its diagnosis is mainly by imaging studies and biopsy. Surgical treatment must be well planned in each of the patients, focused on facial deformities, avoiding visual disorders and is necessary when the lesion is malignant.

O Cripto-1 é um potencial biomarcador para o diagnóstico diferencial dos tumores ósseos benignos e malignos dos maxilares / Cripto-1 is a potential biomarker for the differential diagnosis of benign and malignant jaw bone tumors

O termo lesão fibro-óssea dos maxilares (LFOM) é uma designação inespecífica para um grupo de distúrbios caracterizados, morfologicamente, pela substituição do tecido ósseo por uma matriz de tecido conjuntivo fibrosa, a qual exibe neoformação de tecido ósseo com diferentes graus de mineralização. O diagnóstico preciso das LFOM não é fácil e só pode ser realizado após uma análise minuciosa dos aspectos clínicos, radiológicos e histológicos. No entanto, deve-se admitir que alguns casos desafiam a exatidão na emissão do diagnóstico. Considerando a diversidade do comportamento biológico das lesões e as pesquisas sobre a identificação de potenciais marcadores moleculares, o objetivo deste trabalho foi realizar uma análise imunohistoquímica do cripto-1 (CR-1) e da ß-catenina em uma série de casos diagnosticados microscopicamente como displasia fibrosa (DF) (n=30), fibroma ossificante central (FOC) (n=28) e osteossarcoma (OS) (n=5) armazenados nos arquivos do Serviço de Anatomia Patológica Oral de uma população brasileira. As expressões imuno-histoquímicas foram analisadas através de escore imunorreativo. Os dados obtidos foram inseridos em um arquivo do software Microsoft Excel® e, posteriormente, analisados no software Statistical Package for Social Science. Para todos os testes estatísticos utilizados, o nível de significância foi estabelecido em 5% (p<0,05). O CR-1 exibiu predominância de um padrão fortemente positivo para os casos de FOC e OS, e do padrão moderado para os casos de DF (p<0,001). A ß-catenina exibiu predominância do padrão negativo para os casos de FOC e DF, e do padrão fortemente positivo para os casos de OS (p=0,001). O teste de correlação de Spearman revelou correlação positiva entre os escores imunorreativos de CR-1 e ß-catenina. Os resultados desta pesquisa sugerem a participação do CR-1 na patogênese do FOC e OS, assim como o uso dessa proteína como potencial biomarcador molecular para o diagnóstico diferencial de LFOM (AU).

Fibro-osseous lesions of maxilar (FOLM) is a non-specific designation for a group of disorders characterized, morphologically, by replacement of bone tissue by a matrix of fibrous connective tissue, showing neoformation of bone tissue with varying degrees of mineralization. Precise diagnosis of FOLM is not easy, and requires careful analyisis of clinical, radiological and histological aspects. Even so, some cases still challenge accuracy in diagnosis. Considering the diversity of biological behaviour of the lesions and the research regarding identification of potential molecular markers, this study aims to perform immunohistochemical analysis of crypto-1 and ß-catenin in a series of cases diagnosed microscopically as fibrous dysplasia (FD) (n=30), central ossifying fibroma (COF) (n=28) and osteossarcoma (OS) (n=5), stored in archives of Oral Pathological Anatomy Service of a Brazilian population. Immunohistochemical expressions were analysed by imunorreactive score. All data obtained was inserted into a file of Microsoft Excel® software (Microsoft Corporation, USA) and then transferred to a database of SPSS® for Windows software (Statistical Package for Social Sciences; IBM, USA), version 20.0. For all statistical tests used, the significance level established was p ≤ 0.05. CR-1 showed a predominant pattern of strong positive in COF and OS cases, and a moderate positive in FD cases (p<0,001). ß-catenin showed a predominant negative pattern for COF and FD cases, and a predominant strong positive pattern for OS cases (p=0,001). Spearman correlation tests showed positive correlation of the imunoreative scores of CR-1 and ß-catenin. Those results suggests CR-1 could be involved in the pathogenesis of COF and OS, and this protein could be used as a potential molecular biomarker for diferential diagnosis of FOLM (AU).

Monostotic craniofacial fibrous dysplasia: report of two cases with interesting histology

Fibrous dysplasia (FD) is a relatively rare osseous disease of unknown etiology, wherein the normal bone is replaced by collagen-rich tissue, comprising of fibroblasts and variably abundant immature woven bone. Clinically, it may involve a single bone or multiple bones. It commonly arises in the jaw bone, skull, rib, and proximal femur. Those arising in the skull and the jaw are together termed "craniofacial fibrous dysplasia." The differential diagnosis at this location includes meningioma and metastatic carcinoma. In this report, we highlight two diagnostically challenging cases presenting with orbital swelling and headache as the main complaints. Our first case was misinterpreted as meningioma on intraoperative squash smear, and paraffin sections revealed characteristic features of FD. The second case highlights the morphological feature of non-specific cystic degeneration occurring in FD. Radiographs in such cases show cystic swelling, which is indicative of a secondary aneurysmal bone cyst.

Monostotic fibrous dysplasia: a case report with cone-beam computed tomography findings / Displasia fibrosa monostótica: relato de caso por meio de achados de tomografia computadorizada de feixe cônico

ABSTRACT Fibrous dysplasia is a benign fibrous-osseous lesion in which normal bone is replaced by fibrous connective tissue and immature bone, affecting only one (monostotic) or several bones (polyostotic) and mainly occurring in children and young adults. When present in facial bones, the maxilla is more frequently involved than the mandible, which can cause facial asymmetry in addition to dental complications. In the image exams, the main characteristic of fibrous dysplasia is its unpolished glass appearance. Computed tomography is the ideal method for evaluating this lesion and its relationship with adjacent structures. The use of conventional radiography, due to the overlapping of anatomical structures, makes it difficult to delineate the extension of the lesion. The present study is aimed at guiding dentist-surgeons on the main imaging characteristics of fibrous dysplasia by describing a case of a female 10-year-old patient presenting with this lesion in the maxilla.

RESUMO A displasia fibrosa é uma lesão fibro-óssea benigna em que o osso normal é substituído por tecido conjuntivo fibroso e osso imaturo, podendo afetar um único osso (monostótica) ou vários ossos (poliostótica), ocorrendo principalmente em crianças e adultos jovens. Quando presente nos ossos faciais, a maxila é envolvida com mais frequência que a mandíbula, podendo causar assimetria facial, além de complicações odontológicas. Nos exames por imagem a característica principal da displasia fibrosa é a aparência de vidro despolido. A tomografia computadorizada é o método ideal para avaliação dessa lesão e relação com estruturas adjacentes. A radiografia convencional, devido a sobreposição de estruturas anatômicas, torna difícil a delimitação da extensão da lesão. O presente estudo teve como objetivo apresentar o relato de caso de um paciente do sexo feminino, 10 anos de idade, com presença de displasia fibrosa na maxila, objetivando orientar os cirurgiões-dentistas com relação às principais características imaginológicas dessa lesão.

Fibrous dysplasia of the maxilla in an elderly female: Case report on a 14-year quiescent phase

Fibrous dysplasia (FD) is an uncommon skeletal disorder in which normal bone is replaced by abnormal fibro-osseous tissue. Mainly, FD is found in children, and by adulthood it usually becomes quiescent. Our case showed FD of more than 14-year duration in the left maxilla. Our evaluation was that growth ceased in adulthood and had achieved the static stage. Because FD cases in elderly patients are rarely reported, we hereby present a monostotic FD case in a 65-year-old female. We presented sequential radiographic images and scintigraphic images of this case, and combined them with a literature review that emphasized the progression of the disease.

Displasia fibrosa monostótica en el húmero. Presentación de un caso / Monostotic Fibrous Dysplasia in the Humerus. Case Report

La displasia fibrosa es una enfermedad metabólica ósea caracterizada por acelerada reabsorción ósea, seguida por la formación de una matriz ósea incrementada y desorganizada, de origen incierto. La manifestación clínica más común es el dolor de carácter continuo en la zona dañada. Se diagnostica por la clínica, estudios radiológicos y el uso de marcadores bioquímicos. Se trata con bifosfonatos, indicados en casos con manifestaciones clínicas y en aquellos asintomáticos en los que se evidencien áreas de actividad. Se presenta un paciente con antecedentes de dolor postraumático en el codo derecho, de un mes de evolución, sin respuesta al tratamiento, al que se diagnosticó en la radiografía de tercio distal de húmero derecho lesiones líticas, sin ruptura de las corticales, con marcada reacción perióstica, sin hallazgos radiológicos ni ganmagráficos de lesión a otros niveles. El valor de la fosfatasa alcalina en 1790 mmol/l, corroboró el diagnóstico de displasia fibrosa monostótica en el húmero. Por lo infrecuente de esta localización se decidió la presentación del caso.

The fibrous Dysplasia is a metabolic osseous disease characterized by an accelerated osseous reabsorption, followed by the formation of an osseous womb incremented and disorganized of uncertain origin. The most frequent clinical manifestation is the continuous pain at the damaged zone. It is diagnosed for the clinic, radiological studies and the use of biochemical scoreboards. It is treated with bisphosphonates, indicated in cases with clinical manifestations and in those without symptoms in the ones that evidence areas of activity. A patient with a background of posttraumatic pain in the right elbow of a month of evolution unanswered to the treatment, he was diagnosed in the X-ray picture of third distal part of straight humerus, lithic injuries, without rupture of the cortical, with marked periostatic reaction, without radiological or ganmagraphic findings of lesion to other levels. The value of the alkaline phosphates in 1790 mmol/l corroborated the diagnosis of monostotic fibrous dysplasia in the humerus. The appropriate presentation was decided for the uncommon of this localization.

Displasia fibrosa monostótica: presentación de un caso / Monostotic fibrous dysplasia: a case report

Fundamento: la displasia fibrosa es una enfermedad infrecuente que afecta a los huesos, caracterizada por la sustitución del tejido óseo normal por tejido fibroso inmaduro. Con mayor incidencia durante la adolescencia y en el sexo femenino, puede ser monostótica o poliostótica en dependencia de la afección de uno o más huesos y generalmente es de curso benigno. Los estudios imagenológicos sugieren el diagnóstico que debe confirmarse a través del estudio anatomopatológico. No se dispone actualmente de un tratamiento medicamentoso específico. Caso clínico: paciente de 18 años de edad, que ingresó en el servicio de Neurocirugía del Hospital Universitario Manuel Ascunce Domenech por presentar cefalea frontal de moderada intensidad, se comprobó la presencia de un aumento de volumen a nivel de la región frontal izquierda. Con el diagnóstico presuntivo de displasia fibrosa monostótica se le realizaron rayos X simples y tomografía axial computarizada, donde se evidenció la existencia de lesión tumoral única a nivel de la región frontal y orbitaria derecha con extensión a la base de cráneo anterior que engrosaba el diámetro de estos huesos sugestiva de displasia fibrosa. La discusión colectiva y multidisciplinaria del caso sugirió el tratamiento conservador al tener en cuenta la extensión del proceso a la base craneal. Conclusiones: la displasia fibrosa monostótica del cráneo es una enfermedad benigna de causa no bien esclarecida, cuya presentación clínica depende de su localización. El tratamiento quirúrgico se recomienda en casos donde es posible realizar la excéresis completa de la lesión.

Introduction: fibrous dysplasia is a rare disease that affects bones; it is characterized by the replacement of normal bony tissue by immature fibrous tissue, with increased incidence during adolescence and in the female sex. It may be monostotic or polyostotic depending on the condition of one or more bones involved and it has generally a benign course. Imaging studies suggest diagnosis that must be confirmed by anatomopathologic study. There is no a specific drug treatment currently. Clinical Case: an 18-year-old patient admitted in the Neurosurgery Unit at the University Hospital Manuel Ascunce Domnech presented moderate headache, an increase in volume at the level of the left frontal region was found. With the presumptive diagnosis of monostotic fibrous dysplasia was performed simple X-ray and computerized axial tomography, where was evidenced the existence of single tumor lesion at the level of the right frontal and orbital region, extending to the anterior skull base that increased the diameter of these bones of fibrous dysplasia. The collective and multidisciplinary discussion of the case suggested a conservative treatment taking into account the extension of the lesion to the cranial base. Conclusions: monostotic fibrous dysplasia of the skull is a benign disease of unknown cause, whose clinical presentation depends on its location. Surgical treatment is recommended in cases where it is possible to perform complete exeresis of the lesion.

Displasia fibrosa monostótica: um desafio terapêutico / Monostotic fibrous Dyspalsia: a therapeutic challenge

A displasia fibrosa monostótica é uma condição benigna que se caracteriza pela proliferação e substituição do tecido ósseo por tecido fibroso. Essa doença geralmente inicia-se na infância e progride até a puberdade e adolescência. Relata-se um caso de Displasia Fibrosa Monostótica em um paciente de 15 anos de idade, com aumento de volume assintomático no lado esquerdo do corpo da mandibular que foi tratado cirurgicamente. Por meio de revisão de literatura procurou-se estabelecer critérios de diagnóstico, planejamento e tratamento cirúrgico que norteassem a exérese da displasia fibrosa monostótica nos ossos maxilares.

Monostotic Fibrous Dysplasia is a benign fibro-osseous developmental anomaly where only one bone is involved. This disease usually begins in childhood and progresses throughout puberty and adolescence. The present case is a 15 years-old male patient. The patient was concerned about asymptomatic swelling in his left mandible body. The literature review was used to establish diagnostic criteria, planning and treatment in order to guide the monostotic fibrous dysplasia exeresis in the jaws.

Displasia fibrosa: relato de caso e revisão de literatura / Fibrous dysplasia: story of case and revision of literature

A displasia fibrosa (DF) do osso é uma desordem congênita, não hereditária, do esqueleto e de caráter benigno, que cursa com amplo espectro de apresentação, variando do assintomático à dor óssea, fraturas de repetição, deformidades ósseas (fêmur em cajado de pastor e fácies leonina) e compressão de nervos cranianos. É comumente referida como uma doença óssea de alto turnover. Todos os casos contêm a mutação GNAS1. A DF apresenta duas formas: a monostótica, mais comum, e a poliostótica, mais rara, que quando acompanhada de manchas café-com-leite e puberdade precoce constitui a síndrome de McCune -Albright. O tratamento pode ser feito com medicamentos como bifosfonato ou de forma cirúrgica, objetivando-se a correção das lesões. Este trabalho relata o caso de um menino de cinco anos de idade cujos sinais e sintomas conduziam ao diagnóstico de DF. Além disso, faz revisão de literatura sobre uma doença pouco comum, com variada gama de diagnósticos diferenciais.

Background and Objectives: Fibrous Dysplasia (FD) of bone is a benign nothereditary congenital disorder of medullary bone maintenace in which bone undergoingphysiologic lysis is replaced by abnormal proliferation of fibrous tissue,resulting in assymmetric distortion and expantion of bone. It may be confined toa single bone (monostotic) or involve several bones (polyostotic). Prompt recognitionof this disease is important once it takes part in a wide group of differentialdiagnosis. This review is intended to provide clinicians with an understanding ofthe pathophysiology that underlies FD and its presentation forms. Methods: Thisarticle reviews and analyzes literature relevant to the pathophysiology and managementof FD and presents a case-study of a five-year-old boy who came downwith it. Methods include search of MEDLINE, and bibliographic search of currenttextbooks and journal articles. Results and Conclusions: The patient who wasinvestigated had, at the beginning, bone pain and other symptoms leading toa possible diagnosis of FD, which was confirmed by bone biopsy. He remainsasymptomatic.