Displasia fibrosa maxilar. Del diagnóstico al tratamiento. Reporte de caso / Maxillary fibrous dysplasia. From diagnosis to treatment: Case report / Displasia fibrosa maxilar. Do diagnóstico ao tratamento: Relato de caso

La displasia fibrosa se puede presentar, en cualquier persona, por una mutación en los primeros meses de gestación. Se trata de lesiones óseas benignas en pacientes jóvenes, en las que el tejido óseo normal es sustituido por tejido conectivo fibroso, debido a una alteración funcional de las células, siendo esta la antesala de una neoplasia. El objetivo de éste artículo es presentar un caso local de Displasia Fibrosa Maxilar, enfatizando el manejo clínico, radiográfico, pre y postoperatorio más pertinente. Por lo tanto, se describe el caso de un paciente adolescente de género masculino, afectado por displasia fibrosa en hemimaxilar derecho, a quien le fueron realizados los estudios imagenológicos e histopatológicos necesarios para obtener el diagnóstico definitivo y decidir el abordaje menos invasivo posible cumpliendo con estándares de estética facial; se realizó abordaje intrabucal para shaving óseo, con sedación consciente bajo estricta vigilancia de la especialista en anestesiología y reanimación. Una vez logrado el contorno deseado mediante el uso de piezas de mano de alta y baja velocidad, se realizó la sutura de los tejidos y el paciente egresó ambulante y con buen estado general de salud.

Fibrous dysplasia can occur in any person due to a mutation in the first months of gestation. These are benign bone lesions in young patients, in which the normal bone tissue is replaced by fibrous connective tissue, due to a functional alteration of the cells, being this the prelude to a neoplasm. The aim of this article is to present a local case of Maxillary Fibrous Dysplasia, emphasizing the most relevant clinical, radiographic, pre and postoperative management. Therefore, we describe the case of an adolescent male patient, affected by fibrous dysplasia in the right hemimaxillary, who underwent the necessary imaging and histopathological studies to obtain the definitive diagnosis and decide the least invasive approach possible in compliance with facial aesthetic standards; an intraoral approach was performed for bone shaving, with conscious sedation under strict supervision of the specialist in anesthesiology and resuscitation. Once the desired contour was achieved through the use of high and low speed handpieces, the tissues were sutured and the patient was discharged ambulatory and in good general health.

A displasia fibrosa pode ocorrer em qualquer pessoa devido a uma mutação nos primeiros meses de gestação. São lesões ósseas benignas em pacientes jovens, nas quais o tecido ósseo normal é substituído por tecido conjuntivo fibroso, devido a uma alteração funcional das células, sendo esse o prelúdio de uma neoplasia. O objetivo deste artigo é apresentar um caso local de Displasia Fibrosa Maxilar, enfatizando o manejo clínico, radiográfico, pré e pós-operatório mais pertinente. Portanto, descrevemos o caso de um paciente adolescente do sexo masculino, afetado por displasia fibrosa no hemimaxilar direito, que foi submetido aos exames de imagem e histopatológicos necessários para obter um diagnóstico definitivo e decidir sobre a abordagem menos invasiva possível, em conformidade com os padrões estéticos faciais; foi realizada uma abordagem intraoral para raspagem óssea, com sedação consciente sob estrita supervisão do especialista em anestesiologia e ressuscitação. Depois que o contorno desejado foi obtido com o uso de peças de mão de alta e baixa velocidade, os tecidos foram suturados e o paciente recebeu alta ambulatorial em bom estado geral de saúde.

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

Effects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience

ABSTRACT Objective: Fibrous dysplasia (FD) is a rare bone disorder that can involve any part of the skeleton, leading to bone pain, deformities, and fractures. Treatment with intravenous bisphosphonates has been used with variable results. Therefore, we aimed to evaluate the effects of zoledronic acid (ZA) therapy in patients with monostotic or polyostotic FD. Subjects and methods: The medical records of thirteen patients with FD evaluated between 2015 and 2020 were retrospectively analyzed. In the subgroup of patients treated with ZA (n = 7), data on pain relief, changes in bone turnover markers (BTMs), and adverse events following ZA infusions were retrieved. Moreover, radiological changes in response to treatment were recorded in patients who underwent radiological follow-up. Results: Of the patients, 5 (38%) presented with monostotic whereas 8 (62%) had polyostotic FD. Bone pain was a common finding (69%), and most patients (62%) exhibited elevated baseline BTMs. Partial or complete pain relief was reported in 6 of 7 patients treated with ZA. BTMs, especially C-telopeptide of type I collagen (CTX), significantly decreased after therapy (change rate: −61.8% [IQR −71, −60%]), and median CTX levels were significantly lower than at baseline (0.296 ng/mL [0.216, 0.298] vs. 0.742 ng/mL [0.549, 0.907], respectively; P = 0.04). No radiological improvement was observed in cases with radiological follow-up (n = 3). No serious adverse effects of ZA were reported. Conclusion: ZA treatment was well tolerated and provided beneficial effects in relieving bone pain and reducing BTMs, especially CTX. Our data reinforce the role of ZA in the treatment of FD-related bone pain.

Displasia fibrosa ósea facial. Presentación de un caso

RESUMEN Se presentó un paciente masculino de 8 años de edad, de la raza negra, a la consulta del servicio de Cirugía Maxilofacial del Hospital Américo Boavida de Luanda, en la República de Angola, en el mes de marzo de 2018. Los familiares refirieron una gran deformidad facial de crecimiento lento y progresivo, que se acompañaba de dificultad para respirar por las fosas nasales. Se le realizó un diagnóstico presuntivo de displasia fibrosa facial monostótica del maxilar derecho. Fue intervenido quirúrgicamente bajo anestesia endotraqueal, previa realización de las pruebas para la valoración de la apertura de la boca, donde se tomaron los incisivos superiores e inferiores como referencia: obtuvo una clasificación en clase II (2,6-3 cm) y la escala de Mallampati en grado IV. Se logró superar las dificultades para la intubación. Se le realizó exéresis tridimensional con abordaje de Weber-Ferguson y reconstrucción estética facial.

ABSTRACT An eight-years-old black male patient was attended in the Maxillofacial Surgery Service consultation at the Americo Boavida Hospital in Luanda, Angola, in march 2018. Relatives reported a huge facial deformity with characteristic variable (slow growth) and evolve with time. Also they referred presence of difficulty in breathing through the nostrils, associated with this anomaly. A presumptive diagnosis of monostotic facial fibrous dysplasia of the right maxillary segment was made. He underwent surgery under endotracheal anesthesia, after undergoing tests for the evaluation of the range of mouth opening, where the upper and lower incisors were taken as references: classification obtained in test was Class II (2.6-3 cm) and the Mallampati scale was Grade IV. The intubation procedures difficulties were overcome. Three-dimensional excision with Weber-Ferguson approach and reconstructive plastic surgery was performed.

RESUMO Paciente do sexo masculino, 8 anos, de raça negra, apresentou-se ao serviço de Cirurgia Buco Maxilo Facial do Hospital Américo Boavida, em Luanda, na República de Angola, em março de 2018. Os familiares relataram grande deformidade facial lenta e progressiva, que foi acompanhada de dificuldade em respirar pelas narinas. Foi feito diagnóstico presuntivo de displasia fibrosa facial monostótica da maxila direita. Foi operado sob anestesia endotraqueal, após a realização dos testes de avaliação da abertura da boca, onde foram tomados como referência os incisivos superiores e inferiores: obteve a classificação de classe II (2,6-3 cm) e a escala de Mallampati no grau IV. As dificuldades na intubação foram superadas. A exérese tridimensional foi realizada com a abordagem de Weber-Ferguson e cirurgia plástica reconstrutiva.

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.

Analysis of clinical features in children with McCune-Albright syndrome / 中华实用儿科临床杂志

Objective:To summarize and analyze the clinical features of McCune-Albright syndrome (MAS) in 26 children, to improve the understanding of MAS diagnosis and treatment, and to achieve early clinical diagnosis of MAS.Methods:The clinical data of 26 children with MAS treated in Department of Pediatrics, Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from August 2011 to June 2021 were retrospectively analyzed.Their clinical characteristics were summarized and studied. t-test, Mann- Whitney U test, χ 2 test or Fisher′ s exact probability method was used for comparison between groups. Results:(1) Among the 26 MAS patients enrolled, there were 22 females and 4 males.The average onset age of female and male patients was (5.87±2.94) years old and (7.48±3.36) years old, respectively.(2) In female patients, there were 7 cases with the typical triad and 15 cases with the atypical triad.(3) Female patients had the first symptom of vaginal bleeding (8/22) and breast development (14/22). Among the 4 male children, 1 case had " fracture" and 3 cases " lagged behind their peers in height" at the first visit.(4) Compared with the breast development group, the vaginal bleeding group had an earlier onset age[(4.06±1.88) years old vs.(7.82±1.82) years old] ( t=5.023, P<0.001), earlier bone maturation[(1.26±0.07) vs.(1.09±0.13)] ( t=2.933, P<0.05), a greatly lowered predicted adult height[(-2.16±0.98) SDS vs.(-0.96±1.09) SDS]( t=1.352, P<0.05), a lower blood phosphorus level[(1.41±0.14) nmol/L vs.(1.67±0.24) nmol/L] ( t=1.941, P<0.05), and a significantly elevated alkaline phosphatase level[339(313, 656) U/L vs.243(205, 452) U/L] ( U=1.000, P<0.05). All patients (8 cases) in the vaginal bleeding group had fibrous dysplasia of bone.(5) Ten patients progressed to central precocious puberty (CPP). They showed an older average age of onset[(7.27±2.69)years old vs.(4.69±2.68)years old] ( U=44.000, P<0.05), significantly earlier bone maturation at diagnosis[(1.23±0.11) vs.(1.01±0.13)] ( t=1.834, P<0.05), and a lower predicted adult height[(152.00±4.62) cm vs.(162.10±6.91) cm] ( t=3.805, P<0.05), compared with those who did not progress to CPP.(6) Eleven children developed polyostotic fibrous dysplasia of bone, and most common type (8 cases) was polyostotic fibrous dysplasia of bone, primarily at lower limb bones and skulls.(7) Of the 26 children, 20 cases had scattered Café au lait pigments on the skin.The Café au lait pigmented skin lesions in 35% (7/20) cases crossed the midline. Conclusions:With complicated clinical manifestations, MAS is more common and occurs earlier in girls than boys.It is difficult to clinically diagnose MAS in boys due to the insidious onset and atypical symptoms.Female MAS patients with vaginal bleeding as the first symptom usually have an early age of onset, advanced bone age and lower predicted adult height, so they should be monitored and evaluated clinically.Vaginal bleeding is significantly associated with polyostotic fiber dysplasia of bone in MAS patients.Therefore, it is recommended that patients with vaginal bleeding should undergo a routine bone single-photon emission computed tomography scan.This helps understand the situation of occult fiber dysplasia of bone.Patients with later diagnosis and advanced bone age should be aware of the possibility of progression to CPP.

Thirty Cases of Front-orbital Fibrous Dysplasia: Intraoperative Optic Canal Localization with Three-bits Method and Outcomes Evaluation / 肿瘤防治研究

Objective To investigate the indications of optic canal decompression in the patients with front-orbital fibrous dysplasia and the methods of intraoperative optic canal localization and decompression. Methods We collected 30 cases of fibrous dysplasia. All patients had sufficient images assessment. Patients with symptoms underwent surgery, including front-orbital cranioplasty and optic canal decompression. The frontotemporal epidural approaches were used. If there was a proptosis, the approach was extended with the removal of superior orbital ridge. Six patients undertook intraoperative CT and MRI fusion navigation, assisting in confirming the trunk, orbital and cranial orifice of optic nerve. During the operation, the optic canals were decompressed by three-bits method, to confirm the position of optic nerve. Results There were 30 cases of optic canal decompression and one case of vision loss. The visual acuity and vision field of the remaining patients improved to varying degrees. The proptosis disappeared or alleviated after the operation. Thirteen cases were reconstructed with normal internal plate, five cases with titanium plate, nine cases without reconstruction, and two cases were paved with proliferative broken bone on the orbital top; one case recurred with exophthalmos again after five years, but the visual acuity did not decline. Conclusion For the patients with front-orbital fibrous dysplasia, active surgical treatment should be taken, optic canal decompression should be chosen for diminution of vision, craniofacial anaplasty and orbital decompression should be performed in patients with facial deformity. The epidural approach is a good option to locate the optic nerve from the orbital orifice or cranial orifice. Combined with the three-bits method, we can achieve safe and meticulous optic nerve decompression.

Epidemiological and Clinical Characteristics of Fibrous Dysplasia of Bone / 肿瘤防治研究

Objective To describe the epidemiological and clinical characteristics of fibrous dysplasia of bone admitted to a single center in the past 30 years. Methods We analyzed the clinical features of 744 patients with bone fibrous dysplasia diagnosed by pathology, including age, gender, disease location, monostotic or polyostotic lesions, pathological fracture and malignant transformation. Results There were 1183 lesions in 744 patients. The mean age at admission was 31.1±13.5 years old. The ratio of male to female was close to 1:1. The most common site was the lower extremities (916(77.4%)), followed by the upper extremities (106(9.0%)). The most common sites of lower extremities were the femur (645(54.5%)) and the tibia (224(18.9%)). Polyostotic cases accounted for 25.4%, and monostotic cases accounted for 74.6%. Pathological fracture occurred in 163 (13.8%) patients. There were 6 (0.8%) patients with malignant transformation. The mean age was 40.5 years old. The mean time of malignant transformation was 7.7 years. Conclusion Fibrous dysplasia of bone is a rare group of benign bone tumors, with typical epidemiological and clinical features.

Is periostin useful as a biomarker for fibrous dysplasia? / ¿Es útil periostina como biomarcador de displasia fibrosa?

Fibrous dysplasia (FD) is an infrequent non-hereditary bone disease caused by a somatic mutation of the GNAS gene. Periostin is a novel marker that increases during tissue healing and fibrous or inflammatory diseases. We conducted an exploratory case-control study to evaluate sensitivity of periostin as a biomarker of FD. The study comprised 15 patients with FD, and healthy age- and sex-matched subjects (controls). Serum periostin levels were assessed and comparisons were established between FD patients and controls, and between patients with the monostotic and the polyostotic form of FD. No statistically significant differences in serum periostin levels were observed between the cohort of FD patients studied here and the control group (FD: 51.1±10ng/ml vs. control: 44.2±15ng/ml; p=0.15), or between the clinical forms of FD (polyostotic: 51.8±9.1ng/ml vs. monostotic: 49.6±13 ng/ml; p=0.66). A sub-analysis performed to compare serum levels of periostin in FD patients with and without a history of fractures showed no statistically significant differences [fracture patients (n=4): 41.2±17ng/ml vs. non-fracture patients (n=11): 49.9±11 ng/ml; p=0.47].Lastly, sensitivity of periostin as a biomarker of FD was analyzed, and was found to have low sensitivity to estimate disease activity [ROC curve; cut-off points: 39.625(0.867-0.467)]. To conclude, in the cohort of FD patients studied here, periostin serum levels did not differ significantly from those of the control group or between the two forms of the disease, and showed low sensitivity as a biomarker of the disease. (AU)

La displasia fibrosa (DF) es una enfermedad infrecuente del hueso, no hereditaria producida por una mutación somática del gen GNAS. Periostina (Postn) es un novedoso marcador, cuyos niveles séricos se encuentran elevados en los procesos de reparación tisular, enfermedades fibrosas o inflamatorias. Llevamos a cabo un estudio exploratorio caso-control para evaluar la sensibilidad de Postn como biomarcador de DF. Se incluyeron en el estudio 15 pacientes con DF apareados por edad y género con sujetos sanos (controles) en los cuales se evaluó los niveles séricos de Postn en pacientes con DF y controles y según forma de presentación clínica. No observamos diferencias estadísticamente significativas en los niveles séricos de Postn y el grupo control (DF: 51.1±10ng/ml vs. control: 44.2±15ng/ml; p=0.15) como así tampoco por forma clínica de DF (poliostótica: 51.8±9.1ng/ml vs. monos-tótica: 49.6±13 ng/ml; p=0.66). Posteriormente realizamos un sub-análisis para evaluar los niveles séricos de Postn en los pacientes con DF y antecedentes de fracturas no observan-do diferencias estadísticamente significativas [fracturados (n=4): 41.2±17ng/ml vs. no frac-turados (n=11): 49.9±11 ng/ml; p=0.47]. Por último analizamos la sensibilidad Postn como biomarcador de DF, mostrando este poseer escasa sensibilidad para estimar actividad de la enfermedad [curva ROC; puntos de corte: 39.625 (0.867-0.467)]. En conclusión, los ni-veles séricos de Postn en nuestra cohorte de pacientes con DF no mostraron diferencias estadísticamente significativas comparadas con el grupo control o por forma clínica de presentación, mostrando una baja sensibilidad como biomarcador de enfermedad. (AU)

Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region / 北京大学学报(医学版)

OBJECTIVE@#To compare the clinicopathologic features and prognosis of the different types of fibrous dysplasia (FD) of cranio-maxillofacial region, so as to provide a new reference for clinicians to treat these patients and make prognostic judgement.@*METHODS@#Clinical records, radiographic data and pathological information of 105 patients diagnosed with FD or McCune-Albright syndrome (MAS) at the Department of Oral Pathology, Peking University Hospital of Stomatology from January 2013 to December 2020 were collected. The patients were divided into 4 groups: monostotic FDs, polyostotic FDs, MAS and a specific type called craniofacial fibrous dysplasia (CFD) limited in the craniofacial region. The clinicopathological characteristics, treatment and follow-up data of each type were analyzed.@*RESULTS@#Of all the 105 patients, 46 were males and 59 were females, with a male-to-female ratio of 1 ∶1.3. The onset age ranged from 0 to 56 years and the median age was 12 years. On the basis of different involvement conditions, 4 types were divided. The most common type was monostotic FDs (43 cases, 40.95%), including maxilla (29 cases), mandibular (12 cases) and zygoma (2 cases). 32 cases (30.48%) were diagnosed with polyostotic FDs, 7 cases (6.67%) were MAS, and 23 cases (21.90%) were CFDs confirmed by computed tomography (CT) analysis. CFD was clearly distinct from other types of FD, such as the patient gender and the serum alkaline phosphatase level in peripheral blood before operative surgery. The pathologic findings of various types FD were quite similar, whilst the predominant fibrous tissue hyperplasia could be observed in polyostotic FDs and MAS types.@*CONCLUSION@#The clinicopathologic features of FD in the cranio-maxillofacial region are different from the FD lesions in other parts of the body. The clinicopathological features of CFD are significantly different from those of monostotic and polyostotic FDs in the cranio-maxillofacial region. Therefore, the clinicians should pay attention to distinguish CFD in clinic, imaging and pathology aspects, so as to further clarify its features in clinic management and prognosis.

Síndrome de McCune-Albright, una forma poco frecuente de pubertad precoz: diagnóstico, tratamiento y evolución / McCune-Albright syndrome, a rare form of precocious puberty: Diagnosis, treatment, and follow-up

Introducción. El síndrome de McCune-Albright (SMA) es un trastorno genético caracterizado por displasia ósea fibrosa, manchas cutáneas color "café con leche" e hiperfunción autónoma de uno o varios órganos endocrinos. El SMA es producido por mutaciones activadoras del gen GNAS1. La endocrinopatía más frecuente es la gonadal, que se manifiesta como pubertad precoz periférica. Objetivo. Describir las características clínicas y los estudios de laboratorio e imágenes en el momento del diagnóstico y a lo largo de la evolución de la enfermedad, con énfasis en la tríada clásica del síndrome. Población y métodos. Estudio clínico observacional, descriptivo, retrospectivo de las historias clínicas de pacientes con SMA de la División de Endocrinología del Hospital de Niños Ricardo Gutiérrez desde 1974 hasta 2019. Resultados. Se presentan 12 niñas. Todas tuvieron pubertad precoz periférica (PPP) secundaria a quistes ováricos funcionantes. La edad de presentación fue temprana (2,6 ± 1,3 años). Los niveles de gonadotrofinas estuvieron suprimidos o en rango prepuberal con niveles de estradiol generalmente elevados. Diez niñas tuvieron manchas "café con leche" desde el nacimiento. Durante la evolución se detectó displasia fibrosa poliostótica en todas las pacientes. Los tratamientos utilizados para disminuir la recurrencia de los quistes ováricos y los efectos del hiperestrogenismo mostraron diferente eficacia. Conclusiones. En esta serie, la aparición de PPP contribuyó al diagnóstico temprano del SMA y fue de difícil tratamiento. En la evolución persistió la hiperfunción gonadal y empeoraron las lesiones óseas.

Introduction. McCune-Albright syndrome (MAS) is a genetic disorder defined by fibrous dysplasia of bone, café-au-lait skin spots, and autonomous hyperfunction of one or more endocrine organs. MAS is caused by activating mutations of the GNAS1 gene. The most frequent type of endocrinopathy is gonadal endocrinopathy in the form of peripheral precocious puberty. Objective. To describe the clinical characteristics, laboratory and imaging tests at the time of diagnosis and over the course of the disease, focusing on the classical triad of MAS. Population and methods. Observational, descriptive, retrospective clinical study of patients with MAS seen at the Department of Endocrinology of Hospital de Niños Ricardo Gutiérrez between 1974 and 2019. Results. Twelve girls are described, all of whom developed peripheral precocious puberty (PPP) secondary to functional ovarian cysts. Their age at presentation was early (2.6 ± 1.3 years). Gonadotropin levels were suppressed or in the prepubertal range with generally high estradiol levels. Ten girls had café-au-lait skin spots since birth. During the course of disease, polyostotic fibrous dysplasia was detected in all patients. The treatments used to reduce ovarian cyst recurrence and hyperestrogenism effects showed varied effectiveness. Conclusions. In this series, the onset of PPP helped to make an early diagnosis of MAS and was difficult to treat. The course of disease showed persistent gonadal hyperfunction and worsening of bone injuries

Displasia fibrosa en seno etmoidal y esfenoidal: a propósito de un caso

Resumen La displasia fibrosa es una enfermedad del hueso, benigna, idiopática, de base genética y de progresión lenta, que se caracteriza por el reemplazo progresivo del hueso normal con tejido fibrótico, entremezclado con trabéculas óseas irregulares. El cráneo también es un sitio frecuente de afectación, los huesos del complejo craneofacial, incluida la mandíbula, el maxilar, la base y la bóveda craneal, son los principalmente afectados. Los huesos etmoidales, esfenoidales, frontales y temporales son afectados con poca frecuencia. En este artículo se presenta un caso de una paciente con cefalea y dolor en hemicara derecha, exoftalmos y edema periorbitario ipsilateral. Luego del examen físico, se realizó tomografía computarizada y biopsia del tumor, llegando al diagnóstico de displasia fibrosa de seno etmoidal y esfenoidal. Se maneja en forma conservadora, con seguimiento cada 6 meses para evaluar evolución. Es un caso con una localización infrecuente, y que debe ser cuidadosamente evaluado para adoptar la conducta terapéutica correcta.

Abstract Fibrous dysplasia is a slowly progressive, genetically based, benign, idiopathic bone disease characterized by progressive replacement of normal bone with fibrotic tissue, interspersed with irregular bone trabeculae. The skull is also a frequent site of involvement, the bones of the craniofacial complex, including the mandible, the maxilla, the base and the cranial vault, are mainly affected. The ethmoid, sphenoid, frontal, and temporal bones are affected at a low rate. This article presents a case of a patient with headache and pain in the right side, exophthalmos, and ipsilateral periorbital edema. After the physical examination, a computed tomography and biopsy of the tumor were performed, reaching the diagnosis of fibrous dysplasia of the ethmoid and sphenoid sinus. Conservative management is given, with follow-up every 6 months to assess evolution. It is a case with an infrequent location, and it must be carefully evaluated to take therapeutic behavior.

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.

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.

Nano-hydroxyapatite/polyamide 66 composite filling combined with locking plate in the treatment of fibrous dysplasia of femoral bone / 中国组织工程研究

BACKGROUND: Nano-hydroxyapatite/polyamide 66 composite (n-HA/PA66) has good biocompatibility, osteoinduction, osteoconductivity and osteogenesis. It is widely used in clinical fracture healing, spinal fusion, and other bone repair. OBJECTIVE: To observe the effect of n-HA/PA66 filling combined with locking plate in the treatment of fibrous dysplasia of femoral bone. METHODS: From May 2015 to May 2018, 15 patients with fibrous dysplasia of bone were admitted to Xingtai People’s Hospital Affiliated to Hebei Medical University. There were 4 males and 11 females, aged 16-58 years. The lesions were all located in the femur. They were all treated with n-HA/PA66 filling combined with locking plate. The patients were followed up for 18-40 months. Imaging examination (X-ray and CT scan) was carried out to evaluate the bone healing. Musculoskeletal Tumor Society (MSTS) score and Harris score were used to assess the functional recovery of patients after operation. RESULTS AND CONCLUSION: (1) X-ray films showed that there was a clear boundary between the transplanted bone and the host bone immediately after the operation. At 3 months after the operation, the transplanted bone was replaced partly by crawling. At 6 months, new bone formation was obvious. At 9-12 months, new bone formed completely. The transplanted bone was basically catabolized. At 18 months, the new bone was completely integrated with the host bone. The boundary between the new bone and the host bone disappeared. New bone and host bone are connected by direct trabecula. (2) At the last follow-up, CT images showed that the local lesions were eliminated; no recurrence or metastasis occurred; and the grafts healed completely. The G/N ratio was 0.78±0.09. (3) At the last follow-up, 15 patients’ pain all disappeared, MSTS score was 28.1±0.7. Harris score was 94.3. Daily physical activity was restored. (4) n-HA/PA66 composite material has obvious osteogenic effect on the bone defect caused by the removal of fibrous dysplasia. Locking plate fixation can make patients move early and obtain good postoperative function.

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.

Discondrosteosis de Léri-Weill. Presentación de una familia afectada / Léri-Weill dyschondrosteosis. Presentation of an affected family

RESUMEN Fundamentación: La discondrosteosis de Léri-Weill, displasia ósea de origen genético que afecta la región mesomélica con acortamiento de las extremidades, provoca talla baja con extremidades cortas con deformidad de Madelung; esta enfermedad muestra un patrón de herencia autosómico dominante con alta penetrancia. Objetivo: Describir las deformidades de esta discondrosteosis de baja frecuencia con expresividad variable, que se presentó de la misma forma en todos los afectados de esta familia. Presentación de caso: Se reportó una familia con enfermos en tres generaciones con deformidad de Madelung de ambas muñecas y baja estatura de origen mesomélico, que se mantiene seguimiento en consultas de Genética Clínica y Ortopedia. Conclusiones: El examen físico y radiológico imprescindibles para llegar al diagnóstico clínico. El método clínico y la valoración multidisciplinaria resultaron de gran valor para definir esta enfermedad y poder brindar un adecuado asesoramiento genético a esta familia.

ABSTRACT Background: Léri-Weill dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causes short stature with short extremities with Madelung deformity.This disease shows an autosomal dominant inheritance pattern with high penetrance. Objective: To describe the deformities of this low frequency dyschondrosteosis with variable expressivity which was presented in the same way in all those affected in this family. Case presentation: A family with sick members was reported in three generations with Madelung deformity of both wrists and short stature of mesomelic origin which is followed up in consultations of Clinical Genetics and Orthopedics. Conclusion: The essential physical and radiological examination to reach the clinical diagnosis. The clinical method and the multidisciplinary assessment were of great value to define this disease and to be able to provide adequate genetic counseling to this family.

Tumores fibroóseos de cavidades paranasales: experiencia en el Hospital Clínico de la Universidad de Chile y revisión de la literatura / Fibro-osseous tumors of paranasal cavities: experience in the Hospital Clínico de la Universidad de Chile and review of the literature

Los tumores de cavidades paranasales presentan una baja frecuencia. Dentro de éstos, entre los benignos destacan las lesiones fibroóseas que se caracterizan por el reemplazo de hueso normal por estroma celular fibroso. Dentro de estas lesiones se describen osteoma, displasia fibrosa y fibroma osificante. Se revisan 3 casos de pacientes del Hospital Clínico de la Universidad de Chile y se presenta una revisión bibliográfica en cuanto a las lesiones fibroóseas, su clínica, diagnóstico, imagenología y tratamiento.

The tumors of paranasal cavities present a low frequency. Among the benign tumors are fibro-osseous lesions characterized by the replacement of normal bone by fibrous cell stroma. Osteoma, fibrous dysplasia, and ossifying fibroma are described within these lesions. Three cases of patients from the Hospital Clínico de la Universidad de Chile are reviewed and a bibliographic review is presented regarding the fibro-osseous lesions, their clinical features, diagnosis, imaging and treatment.