Displasia fibrosa poliostótica: a propósito de un paciente / Fibrous dysplasia polyostotic: apropos of a patient

La displasia fibrosa es una condición fibro-ósea benigna que consiste en la sustitución de tejido óseo por tejido fibroso; es considerada una lesión pseudotumoral benigna del esqueleto y es, generalmente, asintomática. Se presenta una paciente femenina de 47 años de edad con displasia fibrosa, variedad poliostótica, enfermedad ósea muy poco frecuente. Los estudios imagenológicos simples y la tomografía axial computarizada, por su gran riqueza en hallazgos, permitieron realizar el diagnóstico, que se confirmó mediante el estudio anatomopatológico(AU)

Displasia fibrosa poliostótica: revisión de la literatura y reporte de caso / Polyostotic fibrous dysplasia: literature review and case report

La displasia fibrosa (DF) es una enfermedad rara causada por una mutación genética esporádica y congénita donde existe un trastorno en la maduración del mesénquima óseo. Se presenta un paciente de sexo masculino de 27 años, con antecedentes de fractura de tabique nasal y dolor en la región frontal asociada a náuseas e imposibilidad para caminar desde hace ocho años. Al examen físico se encuentra asimetría craneofacial, disminución de la agudeza visual e hipoacusia bilateral. La resonancia magnética cerebral revela hiperostosis y disminución de volumen del cerebro, cerebelo y senos paranasales. La exploración radiológica revela aumento difuso del volumen del componente medular óseo con compromiso poliostótico. Se diagnostica displasia fibrosa ósea poliostótica sobre la base de los datos clínicos y de imágenes. El diagnóstico de este paciente fue tardío. Se ha reportado que, en pacientes jóvenes, el diagnóstico de displasia fibrosa es radiológico y que, en raras ocasiones se requiere biopsia ósea. (AU)

Fibrous dysplasia (FD) is a rare disease caused by a sporadic genetic mutation that generates a disruption in the maturation of bone mesenchyme. We report a 27 year old male patient, with a history of nasal septum fracture and frontal region pain associated with nausea, and walking disability for eight years. At the physical examination we found craniofacial asymmetry, decreased visual acuity, and bilateral deafness. Brain magnetic resonance imaging revealed hyperostosis and decreased volume of brain volume, cerebellum, and sinuses. Skeletal survey revealed diffuse enlargement of the bone marrow component and polyostotic involvement. Diagnosis of polyostotic fibrous dysplasia bone was based on clinical and imaging data. The diagnosis of this patient was late. It has been reported that in young patients FD is diagnosed by radiological methods, rarely requiring bone biopsy. (AU)

Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up.

BACKGROUND: McCune-Albright syndrome (MAS) is a genetic disorder characterized by the triad of fibrous dysplasia, skin hyperpigmentation, and autonomous hyperfunction of various endocrine organs. MAS frequently presents in females as precocious puberty (PP). Although many treatments have been proposed, the preservation of final height (FH) in these patients remains a challenge. OBJECTIVES: To evaluate the efficacy of tamoxifen in improving the FH prediction (FHP) in patients with MAS. METHOD: We retrospectively analyzed 8 female patients with MAS who presented with café-au-lait spots and gonadotropin-independent PP. The patients were followed for a mean period of 8.3 years (range: 3-16). RESULTS: All patients were treated with tamoxifen (10-20 mg/day) for 3-8 years (mean ± SD: 5.75 ± 2.05), which resulted in the cessation of vaginal bleeding and the stabilization of bone age maturation. There was a significant difference between the FHP at the beginning of treatment and at the end of treatment (145.1 ± 8.6 cm; Z score -2.84 ± 1.44 cm) and at the last evaluation (157.0 ± 9.2 cm; Z score -0.85 ± 0.54 cm; p < 0.001). CONCLUSION: Our results support a role for tamoxifen in improving the FHP in patients with MAS.

Síndrome de Albrigth-Mccune Sternberg: reporte de un caso y revisión de la literatura / Albright-Mccune Sternberg syndrome: case report and literature review

El síndrome de Albright-McCune Sternberg (SAMS) es un desorden raro que se origina de una mutación del gen GNAS1. Se caracteriza por presentar un fenotipo típico, el cual incluye fibrodisplasia (FD) poliostótica, pubertad precoz (PP), pigmentaciones café au lait (café con leche) junto con otras endocrinopatías. La presente investigación trata de una paciente femenina de 22 años de edad con SAMS la cual presenta algunos signos y síntomas del síndrome tales como: FD poliostótica, pigmentaciones color café con leche en la piel, PP e hipotiroidismo. Acudió por dolor a nivel de las encías inferiores producto de un aumento óseo bimaxilar, inicia su enfermedad actual en mayo de 2013 presentando dolor a nivel de mucosa gingival inferior, localizado, punzante, de intensidad moderada, el cual se agrava ante la masticación y dura hasta el cese del estimulo. La FD fue diagnosticada posterior a la realización de una biopsia de tejido óseo y estudios radiográficos, la paciente presentó metrorragia a los nueve meses de edad el cual se repitió a los cinco años y persistió de manera intermitente hasta los veinte años de edad donde fue diagnosticada con ovarios poliquísticos por lo cual se le prescribió etinilestradiol y acetato de ciproterona. Aunque el SAMS generalmente cursa con una hiperfunción endocrina la paciente tiene un diagnóstico de hipotiroidismo por lo cual está bajo tratamiento con levotiroxina.

The Albright-McCune Sternberg syndrome (AMSS) is a rare disorder that arises from a mutation of the GNAS1 gene. It is characterized by a typical phenotype, which includes polyostotic fibrous dysplasia (FD), precocious puberty (PP), cafe-au-lait pigmentations and other endocrinopathies. The following research is about a 22 year old female patient with SAMS which presents some signs and symptoms of the syndrome such as polyostotic FD, pigmentation of the skin, PP and hypothyroidism. She attended by pain in the lower gum product of increased bimaxillary volume it began in may 2013 having pain in lower gingiva localized, throbbing, of moderate intensity, which is exacerbated by chewing and lasts until the cessation of the stimulus. The FD was diagnosed after performing a bone biopsy and radiographic studies, the patient had metrorrhagia at nine months of age which was repeated at five years and persisted intermittently until twenty years where he was diagnosed with polycystic ovaries so was prescribed ethinylestradiol and cyproterone acetate. Although the AMSS usually occurs with endocrine hyperfunction the patient has a diagnosis of hypothyroidism which is treated with levothyroxine.

Sarcomatous transformation in the McCune-Albright syndrome.

BACKGROUND: McCune-Albright syndrome is a relatively rare disease characterized by the trio of fibrous dysplasia, café-au-lait pigmentation, and endocrine disturbances. It predominantly affects females and may be associated with sarcomatous degeneration in 0.4% to 4% of the cases. CASE REPORT: This article reports on the case of a 24-year-old female patient who had presented a mass in the oral cavity for 30 days, probably originating from the left ramus of the mandible. She had a previous diagnosis of polyostotic fibrous dysplasia, along with café-au-lait spots and endocrine disorders, thus characterizing McCune-Albright syndrome. Histopathological examination of a biopsy specimen revealed osteosarcoma of the mandible. The patient underwent chemotherapy and a surgical procedure for lesion resection. One year has now passed since the patient's operation, and the disease is under control. DISCUSSION: The patient presented sarcomatous degeneration in areas of fibrous dysplasia, consisting of mesenchymal cells that produced osteoid. Malignant degeneration is rare when it is not associated with McCune-Albright syndrome. There is no curative treatment for the syndrome. Attending physicians need to bring endocrine disorders under control, with surgical treatment in cases of significant deformities, as well as providing clinical and psychological care.

Ovarian function in adolescents with McCune-Albright syndrome.

OBJECTIVE: To evaluate ovarian function, especially ovulation rate, in adolescents with McCune-Albright syndrome (MAS) and a history of peripheral precocious puberty. DESIGN: Prospective cross-sectional study. SETTING: Academic center. PATIENT(S): A total of eight adolescents with MAS were compared with 15 healthy adolescents matched by age, Tanner stage and body mass index. INTERVENTION(S): We determined basal gonadotropins, sex steroids, sex hormone binding globulin, anti-Müllerian hormone, glucose and insulin. A leuprolide acetate test was performed to measure luteinizing hormone (LH) and follicle stimulating hormone (FSH) (at 0 and 3 h), and 17B-estradiol, testosterone and 17-OH-progesterone (at 0 and 24 h). Salivary progesterone levels were used to assess ovulation during the 13th, 18th, 23rd and 28th days of each menstrual cycle for three to five consecutive cycles, and one pelvic ultrasound was performed during the follicular phase. MAIN OUTCOME MEASURE(S): Ovulation rate in adolescents with MAS. RESULT(S): The proportion of ovulatory cycles was 52.6% in controls compared with 35.7% in patients with MAS. CONCLUSION(S): The adolescent girls with MAS appear to have a lower ovulatory rate compared with controls.

Displasia fibrosa de seio maxilar / Fibrous dysplasia of maxillary sinus

Introdução: A Displasia Fibrosa é uma doença benigna do osso, de crescimento lento e etiologia desconhecida. O envolvimento do esqueleto craniofacial não é incomum e, geralmente, produz assimetrias faciais. Relato do Caso: Neste artigo relatamos o caso de um paciente com displasia fibrosa ocupando todo o seio maxilar esquerdo com extensão orbitária confirmado pelo anatomopatológico. Comentários Finais: O tratamento cirúrgico permanece como principal abordagem terapêutica e o seguimento pós-cirúrgico faz-se necessário pelo caráter recidivante desta condição.

Introduction: The Fibrous Dysplasia is a benign bone disease, of slow growth and unknown etiology. The involvement of the craniofacial skeleton is not uncommon and, generally, produces facial asymmetries. Case Report: In this article we report the case of a patient with fibrous dysplasia occupying the entire left maxillary sinus with orbitary extension confirmed in the anatomopathological exam. Final Comments: The surgical treatment remains as the main therapeutic approach and the postoperative follow-up is necessary due to this condition recurrent nature.

Clinical, microscopic and imaging findings associated to McCune-Albright syndrome: report of two cases.

McCune-Albright syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies. This article presents two cases of McCune-Albright syndrome in a middle-aged woman and a young girl. Both patients presented café-au-lait spots on the face and other parts of the body and expansion of the mandible with radiopaque-radiolucent areas with ground-glass radiographic appearance, and were diagnosed as having fibrous dysplasia and endocrine disorders. The patient of Case 1 had fibrous dysplasia on the upper and lower limbs, thorax, face and cranium, early puberty, hyperglycemia, hyperthyroidism and high serum alkaline phosphatase levels. The patient of Case 2 presented lesions on the upper limbs and evident endocrine disorders. In both cases presented in this article, the initial exam was made because of the mandibular lesion. However, a diagnosis of fibrous dysplasia must lead to investigation of the involvement of other bones, characterizing polyostotic fibrous dysplasia, which is manifested in a number of diseases. An accurate differential diagnosis is mandatory to determine the best treatment approach for each case.

Clinical, microscopic and imaging findings associated to Mccune-Albright syndrome: report of two cases

McCune-Albright syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies. This article presents two cases of McCune-Albright syndrome in a middle-aged woman and a young girl. Both patients presented café-au-lait spots on the face and other parts of the body and expansion of the mandible with radiopaque-radiolucent areas with ground-glass radiographic appearance, and were diagnosed as having fibrous dysplasia and endocrine disorders. The patient of Case 1 had fibrous dysplasia on the upper and lower limbs, thorax, face and cranium, early puberty, hyperglycemia, hyperthyroidism and high serum alkaline phosphatase levels. The patient of Case 2 presented lesions on the upper limbs and evident endocrine disorders. In both cases presented in this article, the initial exam was made because of the mandibular lesion. However, a diagnosis of fibrous dysplasia must lead to investigation of the involvement of other bones, characterizing polyostotic fibrous dysplasia, which is manifested in a number of diseases. An accurate differential diagnosis is mandatory to determine the best treatment approach for each case.

A Síndrome de McCune-Albright é caracterizada pela tríade manchas café-com-leite na pele, displasia fibrosa poliostótica e endocrinopatias. Este artigo apresenta dois casos de Síndrome de McCune-Albright em uma mulher de meia idade e em uma menina. Ambos apresentavam manchas café-com-leite na face e em outras partes do corpo, expansão da mandíbula com área radiopaca-radiolúcida com aspecto de vidro despolido na radiografia, com o diagnóstico de displasia fibrosa, e desordens endócrinas. O paciente do Caso 1 apresentava displasia fibrosa nos membros inferiores e superiores, tórax, face e crânio, puberdade precoce, hiperglicemia, hipertireoidismo e elevação da fosfatase alcalina no sangue. O paciente do Caso 2 apresentava lesões nos membros superiores e desordem endócrina evidente. Em ambos os casos apresentados neste artigo, o exame inicial foi realizado devido à lesão mandibular. Contudo, o diagnóstico de displasia fibrosa deve conduzir a pesquisa de envolvimento de outros ossos, caracterizando a displasia fibrosa poliostótica, que se manifesta em um grande número de doenças. O diagnóstico diferencial preciso é fundamental para determinar o tratamento adequado a cada caso.

Características tomográficas da displasia fibrosa craniofacial: estudo retrospectivo de 14 casos / Tomographic features of craniofacial fibrous dysplasia: a retrospective study of 14 cases

OBJETIVO: Apresentar as várias formas de displasia fibrosa craniofacial em um estudo revisional com 14 exames de tomografia computadorizada. MATERIAIS E MÉTODOS: Foram selecionados 14 casos de displasia fibrosa craniofacial atendidos no Serviço de Cirurgia de Cabeça e Pescoço e Otorrinolaringologia e no Serviço de Diagnóstico por Imagem do Hospital Heliópolis, São Paulo, SP, entre 1991 e 2002. Foram avaliados, pelos autores, três dos achados tomográficos mais relevantes: o número de ossos acometidos, a apresentação radiológica predominante e a uni/bilateralidade da doença no crânio. RESULTADOS: Observou-se predomínio do padrão misto em relação à forma de apresentação da doença. Foram vistos, ainda, acometimento contíguo de dois ou mais ossos e equivalência entre casos de acometimento craniofacial unilateral e bilateral, possivelmente por conta dos pacientes serem, em sua maioria, portadores de displasia fibrosa do tipo monostótica. CONCLUSÃO: O conhecimento das características tomográficas da displasia fibrosa craniofacial é de grande importância para que seja feito planejamento cirúrgico adequado e seguimento pós-tratamento.

OBJECTIVE: To describe the different presentations of craniofacial fibrous dysplasia in a revisional study of 14 computed tomography exams. MATERIALS AND METHODS: The authors have selected 14 cases of craniofacial fibrous dysplasia attended at the Head & Neck Surgery/Otorhinolaryngology Service and Diagnostic Imaging Service of "Hospital Heliópolis", São Paulo, SP, Brazil, between 1991 and 2002. Three of the following most relevant tomographic findings were analyzed: number of bones affected, predominant radiological presentation and the disease uni- or bilaterality. RESULTS: A predominance of a mixed pattern was observed in relation to the disease presentation. Also, contiguous involvement of two or more bones was observed as well as equivalence between cases of unilateral and bilateral craniofacial involvement, possibly due the fact that most patients presented the monostotic type of fibrous dysplasia. CONCLUSION: The knowledge of tomographic features of craniofacial fibrous dysplasia is of paramount importance for surgical planning and post-treatment follow-up.

Displasia fibrosa poliostótica associada à síndrome de Mccune-Albright: relato de caso / Polyototic fibrous dysplasia and Mccune-Albright syndrome: case report

A displasia fibrosa é uma condição patológica benigna onde ocorre a proliferação e substituição do tecido ósseo por tecido fibroso. Essa patologia geralmente inicia na infância e progride até a puberdade e adolescência, podendo estar relacionada com a chamada Síndrome de McCune-Albright. A Síndrome de McCune-Albright é uma desordem com múltiplas manifestações clínicas representada pela tríade de displasia fibrosa poliostótica, pigmentação café com leite e alguma endocrinopatia. Nessa síndrome, a displasia fibrosa freqüentemente afeta os ossos do esqueleto facial, causando visível deformidade e prejuízos funcionais. Neste trabalho, os autores apresentam um caso clínico e realizam uma revista de literatura, enfocando os aspectos etiológicos, clínicos, radiográficos, laboratoriais e de tratamento da síndrome de McCune-Albright e da displasia fibrosa

Displasia fibrosa poliostótica con transformación osteosarcomatosa / Bone sarcoma in polyostotic fibrous dysplasia

La transformación sarcomatosa de la displasia fibrosa ha sido reportada en pacientes con y sin antecedentes de tratamientos radiantes, el primer caso documentado y comunicado es del año 1945 por Coley y Stewart. La incidencia actualmente más aceptada es del 0,5 por ciento en las formas monostóticas y del 4 por ciento en las poliostóticas (síndrome de Albrigth). El motivo de ésta presentación es la comunicación de ésta entidad en un paciente de 55 años con antecedentes de displasia fibrosa poliostótica de varios años de evolución (AU)

Displasia fibrosa poliostótica con transformación osteosarcomatosa / Bone sarcoma in polyostotic fibrous dysplasia

La transformación sarcomatosa de la displasia fibrosa ha sido reportada en pacientes con y sin antecedentes de tratamientos radiantes, el primer caso documentado y comunicado es del año 1945 por Coley y Stewart. La incidencia actualmente más aceptada es del 0,5 por ciento en las formas monostóticas y del 4 por ciento en las poliostóticas (síndrome de Albrigth). El motivo de ésta presentación es la comunicación de ésta entidad en un paciente de 55 años con antecedentes de displasia fibrosa poliostótica de varios años de evolución

Evoluçäo da displasia fibrosa óssea na síndrome de McCune Albright / Evolution of fibrous dysplasia of bone in Albrigt's syndrome

A tríade clássica da Síndrome de McCune Albright (SMA) - displasia fibrosa poliostótica (DFP), máculas cutâneas "café au latt" e hiper-função autônoma de uma ou mais glândulas endócrinas - envolve mutações ativadoras do gene GNAS1, codificador da proteína Galpha(s) e conseqüente aumento da produção do sinalizador intracelular AMPc em diferentes tecidos. Embora a pseudo-puberdade precoce (PPP) seja a manifestação clínica mais freqüente, são as alterações ósseas que conferem a maior morbidade à sindrome. Apresentamos o seguimento clínico endocrinológico e a evolução da doença óssea em 4 pacientes portadores da SMA, das quais 3 delas estão sendo tratadas com bisfosfanato (Pamidronato, 2mg/kg). Três das 4 pacientes apresentaram pseudo-puberdade precoce e duas delas desenvolveram hipertiroidismo. A variação do nível de fosfatase alcalina (FA) foi o indicador bioquímico da doença óssea, cujas complicações foram dor e fratura além de obstrução do canal lacrimal em uma e amaurose unilateral em outra como conseqüência das deformidades crânio-faciais. A infusão de pamidronato endovenoso produziu melhora das dores ósseas e reduziu (37 por cento - 54 por cento) os níveis de FA em todas as pacientes. Entretanto, a melhora da qualidade do osso com o uso do bisfosfonato ainda é incerta e para a qual necessitarmos de estudos randomizados e com longo prazo de observação.

Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud's syndrome.

Mazabraud's syndrome, though uncommon, is reported increasingly frequently. It represents an entity readily recognisable radiologically on MR imaging. Awareness of the syndrome, particularly when the myxoma is solitary, can prevent misdiagnosis of intramuscular myxomas (especially when large) as malignant mesenchymal tumors containing myxoid tissue. We review the 34 cases previously reported in the literature and include a recent case from our center.

Albright's syndrome: review of the literature and case report.

Albright's syndrome is characterized by the presence of polyostotic fibrous dysplasia, endocrinopathies and brown spots on the skin. In the present article the authors describe a case occurring in a 20-year-old female patient, who is currently being followed radiographically after a mandibular bone biopsy.

Sonography of multinodular thyroid gland in children and adolescents.

Multinodular disease of the thyroid gland is uncommon in children and adolescents, and has received little attention in the recent literature. This article reviews the clinical, sonographic, and pathologic findings in 16 children with multinodular disease of the thyroid gland, and draws attention to the high incidence of other associated clinical findings. This condition was associated with a triad including renal and digital anomalies in three patients, with McCune-Albright syndrome in two patients, with Hashimoto's thyroiditis in three patients, and with thyroid carcinoma in four patients. Three of five patients with a history of previous radiation therapy had thyroid carcinoma. Sonography is a proven valuable imaging modality for the study of thyroid disease in children and has contributed to our understanding of multinodular disease of the thyroid gland in this age group.

Neurocristopatías pigmentarias névicas / Nevic pigmentary neurocristopathies

Existen tres cuadros con patogenias comunes y manifestaciones clínicas similares: las neurofibromatosis, el síndrome de Albright y el síndrome del nevo pigmentario diseminado. Los tres comparten la presencia en piel de nevos pigmentarios planos, siendo éstos diferentes entre sí desde el punto de vista semiológico, constituyendo un importante signo diagnóstico. Se considera que existe un amplio espectro de enfermedades debidas a alteraciones de la cresta neural y con nevos pigmentarios, para las que se propone la denominación de neurocristopatías pigmentarias névicas

Neurocristopatías pigmentarias névicas / Nevic pigmentary neurocristopathies

Existen tres cuadros con patogenias comunes y manifestaciones clínicas similares: las neurofibromatosis, el síndrome de Albright y el síndrome del nevo pigmentario diseminado. Los tres comparten la presencia en piel de nevos pigmentarios planos, siendo éstos diferentes entre sí desde el punto de vista semiológico, constituyendo un importante signo diagnóstico. Se considera que existe un amplio espectro de enfermedades debidas a alteraciones de la cresta neural y con nevos pigmentarios, para las que se propone la denominación de neurocristopatías pigmentarias névicas