Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright / Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome

BACKGROUND: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies. AIM: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution. MATERIAL AND METHODS: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS. RESULTS: The patients' mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS). CONCLUSIONS: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.

Acromegalia por macroadenoma hipofisiario en paciente con síndrome de McCune-Albright. Reporte de caso y revisión de la literatura / Acromegaly due to pituitary macroadenoma in a patient with McCune-Albright syndrome. Case report and literature overview

Introducción: El síndrome de McCune-Albright (SMA) es una enfermedad rara caracterizada por la triada: manchas cutáneas de color café con leche, displasia fibrosa poliostótica y pubertad precoz. Puede afectar a diversos ejes hormonales, entre ellos el de la hormona de crecimiento (GH), pudiendo asociarse a acromegalia. Reporte de caso: describimos el caso de una mujer de 44 años, con pubertad precoz periférica, hemorragia uterina anormal, crecimiento de manos y pies, prognatismo, prominencia frontal, manchas café con leche y tumoraciones pétreas en cara y antebrazos. Resultados: Apoyados con exámenes laboratoriales y de imágenes, se llegaron a los diagnósticos de acromegalia, hipogonadismo hipogonadotropo y síndrome de McCune-Albright. La paciente fue sometida a tratamiento quirúrgico con persistencia de enfermedad clínica y laboratorial. Conclusión: El diagnóstico y tratamiento oportunos de la acromegalia y sus complicaciones brindará un mejor pronóstico a los pacientes con SMA.

Background: McCune-Albright syndrome (MAS) is a rare disease characterized by the triad: café-au-lait skin spots, polyostotic fibrous dysplasia, and precocious puberty. It can affect various hormonal axes, including growth hormone (GH), and may be associated with acromegaly. We describe the case Case report:of a 44-year-old woman with peripheral precocious puberty, abnormal uterinebleeding, growthof thehands and feet, prognathism, frontal prominence, café-au-lait spots, and stony tumorsonthefaceandforearms.Supportedby Results:laboratory and imaging tests, the diagnoses of acromegaly, hypogonadotropic hypogonadism and McCune-Albright syndrome were reached. The patient underwent surgical treatment with persistence of clinical and laboratory disease. Conclusion: Timely diagnosis and treatment of acromegaly and its complications will provide a better prognosis for patients with MAS

McCune-Albright syndrome - A case report with transmission electron microscopy

Abstract McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.

Displasia fibrosa poliostótica - síndrome de McCune-Albright: reporte de un caso / Polyostotic fibrous dysplasia - McCune-Albright syndrome: a case report / Displasia fibrosa poliostótica - síndrome de McCune-Albright: relato de um caso

Resumen: Introducción: la displasia fibrosa poliostótica es una patología de muy baja prevalencia, por lo que su diagnóstico pasa desapercibido en la mayoría de los casos. Cuando se asocia a endocrinopatías o a lesiones cutáneas hiperpigmentadas corresponde al síndrome de McCune-Albright. Caso clínico: escolar de 8 años, sexo femenino, que presentó una fractura patológica de fémur izquierdo traumática, en la cual se diagnosticó una displasia fibrosa poliostótica. Por presentarse acompañada de pubertad precoz periférica configura el denominado síndrome de McCune-Albright. El control y tratamiento fue multidisciplinario. El equipo de traumatología realizó osteosíntesis con placa y tornillos de la lesión ósea con evolución a la consolidación en plazos habituales (tres meses). A los seis meses de seguimiento la niña se encuentra sin dolor y sin repercusiones funcionales para la vida diaria. Del punto de vista endocrinológico se realizó tratamiento de su pubertad precoz con inhibidores de la aromatasa con el fin de mejorar su talla final y evitar repercusiones psicológicas y emocionales. En este estudio se analizan características de esta patología y su pronóstico vital y funcional.

Summary: Introduction: polyostotic fibrous dysplasia is a low prevalence disease, and for this reason, it often goes undetected. When associated to endocrinopathies and/or hyperpigmented skin lesions we speak about McCune Albright syndrome. Clinical case: eight-year old school girl who presented pathological fracture of the left femur, which was diagnosed as polyostotic fibrous dysplasia. As it was accompanied by peripheral precocious puberty it constituted an indicative clinical picture of the so-called McCune Albright. Control and treatment were multidisciplinary. The traumatology team performed osteosynthesis with plaques and nails to fix the bone lesion, and evolution consolidated in a regular time frame (3 months). Upon six months follow-up, the girl has no pain and presents no functional repercussion in daily life. From the endocrinological perspective, the girl received precocious puberty treatment with aromatase inhibitors with the purpose of improving her final size and avoid psychological and emotional implications. The study presents the characteristics of this condition, as well as its vital and functional prognosis.

Resumo: Introdução: a displasia fibrosa poliostótica é uma doença de prevalência muito baixa, por isso seu diagnóstico passa despercebido na maioria dos casos. Quando associada a endocrinopatias e / ou lesões cutâneas hiperpigmentadas, corresponde à síndrome de McCune Albright. Caso clínico: estudante do sexo feminino, 8 anos, com quadro de fratura patológica traumática do fêmur esquerdo, com diagnóstico de displasia fibrosa poliostótica. Por estar acompanhada de puberdade precoce periférica, configura a chamada síndrome de McCune Albright. O controle e o tratamento foram multidisciplinares. A equipe de trauma realizou osteossíntese de placa e parafuso da lesão óssea com progressão à consolidação nos prazos usuais (3 meses). Aos 6 meses de seguimento, a paciente não apresenta dor e tampouco repercussões funcionais no dia a dia. Do ponto de vista endocrinológico, sua puberdade precoce foi tratada com inibidores da aromatase para melhorar sua altura final e evitar repercussões psicológicas e emocionais. Este estudo analisa as características desta patologia, seu prognóstico vital e funcional.

Pubertad precoz periférica / Peripheral precocious puberty

Introducción: El síndrome de Mc Cune-Albright (SMA) es una rara entidad asociada con la displasia fibrosa poliostótica, con la presencia de manchas de color café con leche y también con la hiperfunción endocrina. La alteración hormonal más frecuente es la pubertad precoz. El SMA se debe a mutaciones activadoras del gen GNAS1. Objetivo: Describir las características clínicas de una paciente con síndrome de Mc Cune-Albright con una pubertad precoz. Métodos: Se realizó una revisión de la historia clínica como fuente primaria y fueron incorporados todos los elementos clínicos, bioquímicos, imagenológicos y genéticos que conformaron la valoración integral de la paciente. Presentación de caso: Se presenta un caso poco frecuente de síndrome de Mc Cune-Albright en una niña de siete años de edad con mamas Tanner II-III, sangrado vaginal, vello axilar y pubiano escaso, manchas café con leche y lesiones óseas. Lleva tratamiento con tamoxifeno, lo que ha logrado mantener frenada la progresión del desarrollo puberal. Conclusiones: Aunque esta entidad es de carácter benigno y la prevalencia es extremadamente baja, el inicio puberal precoz y el compromiso de la talla final pueden producir impacto psicológico en la calidad de vida y en el desarrollo normal del individuo(AU)

Introduction: Mc Cune-Albright syndrome (SMA, by its acronym in Spanish) is a rare entity associated with polyostotic fibrous dysplasia, with the presence of brown spots with milk and also with endocrine hyperfunction. The most common hormonal alteration is precocious puberty. SMA is caused by GNAS1 gene´s activator mutations. Objective: Describe the clinical characteristics of a patient with Mc Cune-Albright syndrome with precocious puberty. Methods: A review of the medical history was carried out as a primary source and all the clinical, biochemical, imaging and genetic elements that made up the comprehensive assessment of the patient were incorporated. Case presentation: A rare case of Mc Cune-Albright syndrome occurs in a seven-year-old girl with Tanner II-III breasts, vaginal bleeding, axillary and pubic hair, brown spots with milk and bone lesions. She is treated with tamoxifen, which has managed to keep the progression of pubertal development slow. Conclusions: Although this entity is benign in nature and the prevalence is extremely low, early pubertal onset and the compromise of the final size can have a psychological impact on the quality of life and normal development of the individual(AU)

Jaffe-Lichtenstein syndrome associated with a simple bone cyst: unprecedented rare case report

Abstract Lesions denominated fibro-osseous lesions of the jaw constitute a diversified group of disorders, in which the normal bone architecture is replaced by fibroblasts, collagen fibers and immature bone. At present, the World Health Organization recognizes four variants of these lesions, namely: bone-cement dysplasia, fibrous dysplasia, ossifying fibroma and Familial gigantiform cementoma. Fibrous dysplasia may present in the monostotic form, affecting one single bone or an isolated craniofacial region; and in the Polyostotic form, involving two or more bones of the skeleton, and eventual association with syndromic conditions. The patient, C.P.G., 43 years old, sought attendance due to symptomatic increase in the region of the mandibular body on the right side. Imaging exams revealed craniofacial areas with ground-glass aspect, beyond the extensive mandibular radiolucent lesion. During the physical exam, spots of the Café au lait type disposed on the right side of the body were identified, in addition to uncoordinated gait with distinct shortening of the right leg. Additional radiographic exams showed evidence of skeletal dissemination of the disease. The patient denied any sexual precocity, and the final diagnosis was fibrous dysplasia, expressed by means of the Jaffe-Lichtenstein syndrome, in association with a simple bone cyst.

Resumo As denominadas lesões fibro-ósseas dos maxilares constituem um grupo diversificado de desordens nas quais a arquitetura óssea normal é substituída por fibroblastos, fibras colágenas e osso imaturo. Atualmente a Organização Mundial de Saúde reconhece quatro variantes destas lesões, sendo elas: a displasia cemento-óssea, a displasia fibrosa, o fibroma ossificante e cementoma gigantiforme familiar. A displasia fibrosa pode ser apresentar na forma monostótica, acometendo um único osso ou a região craniofacial isoladamente, e a forma poliostótica, envolvendo dois ou mais ossos do esqueleto, com eventual associação com condições sindrômicas. Paciente C.P.G., 43 anos, procurou atendimento devido aumento volumétrico sintomático na região de corpo mandibular do lado direito. Exames imaginológicos revelaram áreas craniofaciais com aspecto de vidro fosco ou despolido, além de extensa lesão radiolúcida mandibular. Durante o exame físico foram identificadas manchas do tipo café com leite dispostas do lado direito do corpo, além de marcha descoordenada com nítido encurtamento da perna direita. Novos exames radiográficos evidenciaram a disseminação esquelética da doença. O paciente negou qualquer precocidade sexual e o diagnóstico final foi de displasia fibrosa, expressa por meio da síndrome de Jaffe-Linchtenstein, em associação com um cisto ósseo simples.

Characteristics of 99 Tcm-MDP planar and SPECT/CT imaging in polyostotic bone fibrous dysplasia / 中华核医学与分子影像杂志

Objective To analyze the image characteristics of whole-body bone planar scan and SPECT/CT imaging in patients with polyostotic bone fibrous dysplasia ( PFD) . Methods Twenty-three pa-tients with PFD (12 males, 11 females, age: 10-77(31.4±3.4) years) between June 2007 and March 2017 were enrolled. Twenty-one patients were confirmed pathologically and 2 was diagnosed by follow-up re-sults. The images of 99Tcm-methylene diphosphonate (MDP) whole-body bone scan and SPECT/CT imaging were retrospectively analyzed. Results Bone involvement in the extremities was the most common and lesions in the lower and right limbs were more than those in the upper and left limbs. Lesions were frequently unilat-erally on whole-body bone planar images in 18 of the other 23 patients ( 78. 3％) . Among them, 15/16 with limb lesions showed no bone deformation in limbs, while the enlargement and deformity were more common in the skull, ribs and pelvis. Vertebral involvement was found in 7 of 23 patients (30.4％), and the hand and foot bone involvement was found in 6 of 23 patients (26.1％). Most lesions (96.9％, 248/256) presented high or mod-erate abnormal uptake, which distributed in a stripe shape in the extremities, ribs and skull. On SPECT/CT ima-ges, the ground glass, vegetable sponge and mixed lesions showed higher uptake compared with the cystic le-sions. Conclusions The PFD has certain characteristics on whole-body bone scan. SPECT/CT imaging can reflect pathological, blood flow and metabolic changes of PFD.

Lupus eritematoso sistémico asociado a síndrome de McCune-Albright: reporte de un caso / Systemic lupus erythematosus associated a McCune-Albright syndrome: case report

RESUMEN El Síndrome de McCune-Albright (SMA) es una enfermedad poco frecuente compuesta por una tríada clásica: displasia fibrosa poliostótica (DFP), manchas cutáneas de color café con leche y alteraciones endocrinas, siendo la más frecuente la pubertad precoz. Este síndrome no se ha visto asociado a enfermedades autoinmunes. Reportamos el primer caso de una paciente con SMA y lupus eritematoso sistémico.

ABSTRACT McCune-Albright Syndrome (MAS) is a rare disease characterized by a classical triad: polyostotic fibrous dysplasia (PFD), cafe-au-lait macules and endocrine abnormalities, most frequently precocious puberty. This syndrome has not been associated with autoimmune diseases. We report the first case of a patient with MAS and systemic lupus erythematosus.

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)

Displasia fibrosa craneofacial avanzada por remodelación ósea / Advanced craniofacial fibrous dysplasia of bone remodeling

La displasia fibrosa es un trastorno del desarrollo esquelético del mesénquima de formación ósea que se manifiesta como un defecto en la maduración y diferenciación de los osteoblastos. La displasia fibrosa representa alrededor de 2.5% de todos los tumores óseos y más del 7% de los tumores benignos. El objetivo de este artículo es presentar un caso de displasia fibrosa poliostótica en la región craneofacial, al cual se le realizaron estudios de imagen, biopsia incisional para diagnóstico definitivo y remodelación ósea para mejorar el contorno facial y la calidad de vida del paciente.

Fibrous dysplasia is an abnormal bone growth, it causes abnormal growth or swelling of bone maturation and differentiation. Fibrous dysplasia represents 2.5% of all bone tumors and more than 7% of benign tumors. The aim of this report is to present the findings of a polyostotic fibrous dysplasia case in the craniofacial skeleton. An incisional biopsy was done to make the diagnosis, after that, a bone remodeling surgery was performed to improve the facial contour and in general to improve the quality of life of the patient.

Correction of Fibrous Dysplasia through Malarplasty without Internal Fixation

McCune-Albright syndrome: A case report in a male.

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a male patient with MAS having multiple cafι-au-lait macules and deforming polyostotic fibrous dysplasia involving long bones of the limbs, skull and spine without any endocrine abnormality. Severe bone deformities involving almost all bones have not been described previously and this prompted us to present the current case.

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.

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.

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.

Envolvimento orbitário difuso por displasia fibrosa na síndrome de McCune Albright: relato de caso / McCune Albright syndrome - diffuse orbital involvement due to fibrous dysplasia: a case report

A displasia fibrosa é considerada uma desordem óssea benigna, de progressão lenta na qual há substituição de osso normal por tecido fibroso Quando associada a hiperpigmentação de pele e distúrbios endocrinológicos denomina-se síndrome de McCune Albright. Relatamos um caso raro de síndrome de McCune Albright em uma criança do sexo masculino que apesar de apresentar mínimas distorções crânio-facial externas, mostrou um envolvimento difuso e bilateral das órbitas.

Fibrous dysplasia is a benign, slowly progressive bone disorder, in which normal bone is replaced by fibrous tissue. It is called McCune Albright syndrome when associated with skin hyperpigmentation and endocrinological disorders. We report a rare case of McCune Albright syndrome in a boy, who presented bilateral and diffuse involvement of orbits but few external craniofacial distortions.

Displasia fibrosa poliostótica con afectación de raquis cervical / Poliostotic fibrous dysplasia with affectation of cervical rachis

La displasia fibrosa es un trastorno benigno aunque progresivo, en el que una mutación genética origina la producción de matriz ósea fibrosa desorganizada. El tejido óseo se reemplaza por tejido óseo en expansión (tejido conjuntivo amorfo) que en algunos pacientes produce deformidades óseas, dolor, fracturas patológicas o problemas con la deambulación. Su diagnóstico es importante ya que ocasionalmente el primer síntoma es la fractura. (1-3) Presentamos el caso de un paciente de 21 años con clínica de dolor en región cervical alta. Las pruebas complementarias (radiologia, gammagrafia y RNM) y la anatomía patológica confirmaron el diagnóstico de displasia fibrosa poliostótica con afectación craneal (occipital, esfenoides y fronto-temporal derechas), iliaca, femoral, tibial y cervical (apófisis espinosa de C2). Nuestra actitud fue de realizar una observación estrecha mediante controles periódicos estrictos, aconsejando evitar actividades o deportes de contacto. A los cinco años el paciente está libre de sintomatología. Radiológicamentelas lesiones se han estabilizado. La displasia fibrosa puede afectar a un solo hueso (monostótica) o varis (poliostótica). En ocasiones se asocia a trastornos endocrinos y pigmentaciones cutáneas en el denominado síndrome de McCune-Albright. (7). Nos encontramos ante una patología que precisa un diagnóstico anatomopatológico para confirmarla, de extensión para detectar focos asintomáticos y cuyo tratamiento es sintomático en la mayoría de los casos recurriendo a la cirugía sólo en ocasión de deformidades francas o cuando el riesgo de fractura es considerable, ya que las recidivas son frecuentes. La malignización es excepcional pero posible por lo que necesita observación continuada. La radioterapia está radicalmente contraindicada (6).

The fibrous dysplasia is a benign although progressive dysfunction, in which a gene mutation originates the production of fibrous disorganized bony matrix. The bony tissue is replaced by bony tissue in expansion (amorph conjuntival tissue) that produces bony deformities in some patients, pain, pathological fractures or deambulation disorders. The diagnosis is important since ocasionally the first symptom is the fracture. We show up the case of a 21 year-old patient with pain clinic in high cervical region. The complementary tests (radiology, bone scintigrraphy and MRI) and anatomo-pathology confirmed the diagnosis of polyostotic fibrous dysplasia with cranial (occipital, esfenoides and right frontal and temporal bone), iliac, femoral, tibial and cervical (apophysis of C2) affectation. Our attitude was of carrying out a narrow observation by means of periodical strict controls, advising to avoid hard activities or contact sports. To the five years the patient is free of symptomatology. Radiologically the injuries have been stabilized. The fibrous dysplasia can affect to a single bone (monostotic) or to several (polyostotic). In occasions it is associated to endocrine dysfunctions and skin pigmentations in McCune-Albright's syndrome. We confront a pathology that specifies an anatomo-pathologic diagnosis to be confirmed, an extension diagnosis to detect asymptomatic focuses and whose treatment is symptomatic in most of the cases only using surgery in frank deformities or when the fracture risk is considerable, although the recurrence is frequent. The malignization is exceptional but possible that's why continuous observation is needed. The radiation therapy is radically contraindicated.

A Case of Extensive polyostotic fibrous dysplasia / 대한구강악안면방사선학회지

Fibrous dysplasia is a benign disorder of bone consisting of intramedullary proliferation of fibrous tissue and irregularly distributed, poorly developed bone. The disease manifests itself in the monostotic form in which only one bone is involved and the polyostotic form in which multiple bones at different sites are affected. We reported a extensive case of polyostotic fibrous dysplasia with involvement of craniofacial bones, mandible, ribs, extremities. A 18-year-old man showed remarkable right facial swelling who had been treated on right femur 3 years ago with a bone graft for pathologic fracture and he recognized facial swelling 5 years ago. Extraoral radiograms and computed tomogram showed diffuse sclerosis with a ground glass appearance of the most calvarial bones, facial bones. The right mandibular lesion showed very expansile lesion with mottled appearance. Bone scans showed mutifocal increased uptakes in craniofacial bones, right mandible, bilaterally in ribs, humerus, femur, tibia and characteristic varus deformity of right femur (shepherd's crook defomity). This case showed exceptionally bilateral, extensive nature of bone lesion and didn't show any features of skin pigmentation and endocrine disturbances.

Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area / 대한구강악안면방사선학회지

Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

Polyostotic Fibrous Dysplasia with Cholesteatoma on External Auditory Canal and Mastoid / 대한이비인후과학회지

Fibrous dysplasia of temporal bone is a rare disease that may lead to progressive stenosis of external auditory canal. This stenosis leads to trapping of skin and development of cholesteatoma. Most cases with fibrous dysplasia of temporal bone are monostotic, and the polyostotic type is far more rare. We have experienced a recurred polyostotic fibrous dysplasia with cholesteatoma on the external auditory canal and the mastoid. Our purpose of this paper is to discuss properties and management of this rare disease. A twenty-one-year-old woman who had undergone canaloplasty for polyostotic fibrous dysplasia of right temporal bone and occipital bone 5 years ago returned complaining of intermittent right-sided otorrhea for one year. She underwent canal down mastoidectomy with tympanoplasty type 3 for recurred canal obstruction and developing cholesteatoma. The patient has been followed up regularly for one year. There is no evidence of the recurrence of the disease or associated symptoms. We emphasize the need for a long term follow-up of patients with this disease as cholesteatoma or restenosis may develop insidiously.