Importância do diagnóstico endodôntico frente à displasia cemento-óssea periapical: revisão da literatura / Importance of endodontic diagnosis regarding periapical cemento-osseous dysplasia: literature review

Introdução: a displasia cemento-óssea periapical (DCOP) é uma lesão idiopática benigna mais prevalente na região de incisivos centrais inferiores, em mulheres negras, na faixa etária dos 30 aos 50 anos. Apresenta características radiográficas que podem levar o cirurgião-dentista a um diagnóstico e plano de tratamento equivocados, por ser confundida com periapicopatias. Objetivo: o objetivo do presente artigo foi, por meio de uma revisão de literatura, descrever essa patologia. Métodos: essa revisão foi feita por meio de buscas em duas das principais bases de dados mundiais: PubMed e SciELO. Para isso, foram usados os descritores "periapical cementoosseus dysplasia" e "displasia cemento-óssea periapical", com o objetivo de se avaliar o conteúdo sobre essa temática na literatura atual. Resultados: foram coletados 24 artigos científicos que obedeciam aos seguintes critérios de inclusão: ser uma revisão de literatura ou caso clínico; escrito em língua portuguesa ou inglesa, nos períodos de 1989 a 2016; contemplando a etiologia, características clínicas e radiográficas, diagnóstico, plano de tratamento e prognóstico referentes à displasia cemento-óssea periapical. Conclusão: é importante para o profissional reconhecer os aspectos relevantes da DCOP, a fim de elucidar o diagnóstico diferencial e tratamento e, assim, evitar procedimentos iatrogênicos, tais como terapias endodônticas desnecessárias.

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive pattern of inheritance, although due to the high degree of consanguinity a compound etiology of the phenotype by variants in various genes may be present as well.

Displasia occipital em cão poodle / Occipital dysplasia in poodle dog

The occipital dysplasia has been characterized by a dorsal enlargement of the foramen magnum which can vary in size and shape. Clinical signs may be present or not in animals with occipital dysplasia. The purpose of this study was to diagnose the occipitaldysplasia of a dog, correlating the clinical signs to radiographic findings. It can be concluded that radiographic exam is enough to diagnose occipital dysplasia.

Displasia occipital em cão poodle / Occipital dysplasia in poodle dog

The occipital dysplasia has been characterized by a dorsal enlargement of the foramen magnum which can vary in size and shape. Clinical signs may be present or not in animals with occipital dysplasia. The purpose of this study was to diagnose the occipitaldysplasia of a dog, correlating the clinical signs to radiographic findings. It can be concluded that radiographic exam is enough to diagnose occipital dysplasia.(AU)

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

BACKGROUND: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome. CASE PRESENTATION: Two siblings presented with isolated skeletal manifestations of MFS, including severe pectus excavatum, elongated face, scoliosis in one case, and absence of other clinical features according to Ghent criteria diagnosis, were screened for detection of variants in whole FBN1 gene (65 exons). Both individuals were heterozygous for the R2726W variant. This variant has been previously reported in association with some skeletal features of Marfan syndrome in the absence of both tall stature and non-skeletal features. These features are consistent with the presentation of the siblings reported here. CONCLUSION: The presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings. These findings confirm that FBN1 variants are associated with a broad phenotypic spectrum and the value of sequencing in atypical cases.

Displasia de accipital em pinscher - relato de caso / Occipital dysplasia in pinscher dog - a case report

The occipital dysplasia is a rare disease in dogs. It is characterized by an enlargement of the dorsal occipital bone. It has been associated to small breed animals. We report a case of a dog Pinscher diagnosed with occipital dysplasia through radiographs. We conclude that the animal showed behavioral changes and anorexia due to occipital dysplasia, being of great importance the radiographic examination to confirm the diagnosis.(AU)

Displasia de accipital em pinscher - relato de caso / Occipital dysplasia in pinscher dog - a case report

The occipital dysplasia is a rare disease in dogs. It is characterized by an enlargement of the dorsal occipital bone. It has been associated to small breed animals. We report a case of a dog Pinscher diagnosed with occipital dysplasia through radiographs. We conclude that the animal showed behavioral changes and anorexia due to occipital dysplasia, being of great importance the radiographic examination to confirm the diagnosis.

Condrodisplasia metafisaria tipo Schmid: presentación de un caso / Schimd methaphyseal chondrodysplasia: a case presentation

Fundamento: condrodisplasia metafisaria tipo Schmid, forma parte de las displasias óseas poco frecuentes. Se caracteriza por talla baja, genu varum, pélvis pequeña, cifoescoliosis progresiva, deformidad de la muñeca, miopía, huesos largos cortos y displasia metafisaria grave, con cambios moderados en la columna y cambios mínimos en las manos y los pies.Objetivo: presentar un caso con diagnóstico de displasia ósea tratado por un equipo multidisciplinario para su posterior corrección quirúrgica.Caso clínico: paciente femenina de tres años de edad, con deformidad en miembros inferiores que le provocan baja talla por genu varum. Los antecedentes familiares no refieren datos de interés. En los antecedentes personales prenatales, perinatales y posnatales se encontró que el desarrollo fue normal hasta los 16 meses que comienza a caminar y se observa ligera deformidad que fue aumentando.Conclusiones: la condrodisplasia metafisaria tipo Schmid es una enfermedad hereditaria poco frecuente que se presenta con un patrón de herencia autonómico dominante. Al no existir otro miembro de la familia afectado, se planteó que en este caso ocurrió una nueva mutación o mutación de novo. Es necesario indagar acerca de su presencia en un paciente con deformidad severa de miembros inferiores, con estudio renal y bioquímicos normales. Es importante realizar un diagnóstico precoz, tratamiento y seguimiento multidisciplinario para corregir la deformidad con tratamiento quirúrgico.(AU)

Background: methaphyseal chondrodysplasia is a type of non-frequent bone dysplasia. It is characterized by short stature, genu varum, small pelvis, progressive kyphoscoliosis, wrist deformities, myopia, short long bones and serious methaphyseal dysplasia with moderate changes in the back and minimal changes in hands and feet.Objective: to present the case of a patient with the diagnosis of bone dysplasia treated by a multidisciplinary medical team for a subsequent surgical correction.Clinical case: a three-year-old female patient with a deformity in the lower limbs that causes short stature by genu varum. There was no information of interest in the family medical history. The medical history of the patient showed a normal prenatal, perinatal and postnatal development until she turned 16 months old and started to walk presenting a slight deformity that increased.Conclusions: Schmid methaphyseal chondrodysplasia is an uncommon hereditary disease with a dominant autosomal heredity pattern. Since no other member in the family was affected, there was a De novo mutation in this case. It is necessary to search for its presence in a patient with a serious deformity in the lower limbs with normal biochemical and renal studies. It is important to make an early diagnosis as well as to carry out a treatment and a multidisciplinary follow-up to correct the deformity by means of surgical treatment.(AU)

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is complicated due to the genetic heterogeneity of these disorders, their individual rarity and their diverse radiographic presentations. We used targeted exome sequencing and designed a 1.4 Mb panel for simultaneous testing of more than 4,800 exons in 309 genes involved in skeletal disorders. DNA from 69 individuals from 66 families with a known or suspected clinical diagnosis of a skeletal disorder was analyzed. Of 36 cases with a specific clinical hypothesis with a known genetic basis, mutations were identified for eight cases (22%). Of 20 cases with a suspected skeletal disorder but without a specific diagnosis, four causative mutations were identified. Also included were 11 cases with a specific skeletal disorder but for which there was at the time no known associated gene. For these cases, one mutation was identified in a known skeletal disease genes, and re-evaluation of the clinical phenotype in this case changed the diagnoses from osteodysplasia syndrome to Apert syndrome. These results suggest that the NGS panel provides a fast, accurate and cost-effective molecular diagnostic tool for identifying mutations in a highly genetically heterogeneous set of disorders such as genetic skeletal disorders. The data also stress the importance of a thorough clinical evaluation before DNA sequencing. The strategy should be applicable to other groups of disorders in which the molecular basis is largely known.

Displasia cemento-óssea florida: uma das poucas contraindicações de implantes osseointegráveis / Florid cemento-osseous dysplasia:one of the few contraindications to osseointegrated implants

A Displasia Cemento-Óssea Florida representa uma das poucas situações clínicas de contraindicação para a colocação de implantes osseointegráveis. Como qualquer outro procedimento cirúrgico, inclusive a biópsia, se realizada, a colocação de implante pode abrir as portas para as bactérias acessarem o ambiente ósseo. O osso altamente esclerosado e irregular representa um meio adequado para a proliferação bacteriana e constituição de exuberantes biofilmes microbianos, impedindo o acesso ao local das células e moléculas da defesa orgânica, assim como de antibióticos que, por ventura, venham a ser administrados para o tratamento de uma Osteomielite Crônica Purulenta Secundária, muito comumente vista em pacientes com Displasia Cemento-Óssea Florida. A doença representa um distúrbio dos maxilares no processo de remodelação óssea e, apesar de sua elevada frequência, ainda não se sabe suas causas ou fatores associados, exceto sua predominância em pessoas com alguma afrodescendência, especialmente em mulheres de meia idade...

Florid cemento-osseous dysplasia represents one of the few clinical contraindications to osseointegrated implant placement. As in any other surgical procedure, including biopsy, implant placement might open up the doors to bacteria access to the bone environment. Highly sclerosed irregularbone is appropriate for bacteria proliferation and formation of exuberant microbial biofilm, thereby hindering access not only of local cells and molecules of organic defense, but also of antibiotics potentially administered to treat secondary purulent chronic osteomyelitis commonly found inflorid cemento-osseous dysplasia patients. The disease is a disorder of the maxilla, established during the process of bone remodeling; and despite its high frequency, its causes or associated factors remain unknown, except for its predominance among afrodescendents, especially middle-aged women...

A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.

Brachydactyly type C (BDC), a well-recognized autosomal dominant hand malformation, displays brachymesophalangy of the second, third, and fifth fingers, a short first metacarpal, hyperphalangy, and ulnar deviation of the index finger. An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. BDC and ASPED result from mutations in the CDMP1 gene. We report here a Mexican patient with BDC and clinical features of ASPED who carries a novel mutation in CDMP1, confirming that BDC and ASPED are part of the CDMP1 mutational spectrum. Based on the large number of clinical features in common, we suggest that both anomalies are part of the same clinical spectrum. Supported by an extensive review of the literature, a possible genotype-phenotype correlation in the mutational spectrum of this gene is proposed.

Tópicos sobre displasias óseas / Topics about bone dysplasia

Es importante saber reconocer a las displasias esqueléticas como un grupo heterogéneo de patologías, cuya clasificación es bastante extensa y presenta limitaciones. Por lo anterior, es muy importante obtener mediciones antropométricas y un estudio esquelético completo para poder delinear adecuadamente el fenotipo, y así identificar el grupo diagnóstico al cual pertenece cada paciente y, en lo posible, establecer el diagnóstico. El diagnóstico de los casos que no pertenecen a las patologías más conocidas y comunes, como el grupo de la acondroplasia, presenta desafíos mayores y requiere de un enfrentamiento diagnóstico multidisciplinario.

It is important to recognize skeletal dysplasia as a heterogeneous group of conditions with many classifications all of which have shortcomings. In consequence, it is very important to obtain anthropometric measurements and a complete skeletal work-up so as to properly establish phenotype. Once this is done patients can be assigned to diagnostic groups and diagnosis may be established. Diagnosing conditions that do not belong to the more common and well known diseases – such as achondroplasia – is more challenging and requires a multi-disciplinary approach.

A pigmentary skin defect is a new finding in Marshall-Smith syndrome.

Marshall-Smith Syndrome (OMIM 602535) was described initially by Marshall in two infants with a syndrome characterized by accelerated skeletal maturation, failure to thrive, and dysmorphic facial features. We report a new patient with clinical features of Marshall-Smith syndrome with additional findings such as hyperpigmented lines on trunk and the four extremities. © 2011 Wiley-Liss, Inc.

Condrodisplasia punctata: reporte de un caso y revisión de la literatura / Chondrodysplasia punctata: case report and literature review

Mediante la denominación de condrodisplasia punctata (CDP) se describe a un grupo heterogéneo de displasias esqueléticas infrecuentes caracterizadas por calcificaciones puntiformes del cartílago. Éstas se localizan en las epífisis y en las vértebras desde la infancia e incluso durante el período prenatal, y desaparecen a medida que transcurre la niñez. Esta enfermedad se caracteriza por su heterogeneidad genética, esto es la posibilidad de generar una serie de fenotipos similares que pueden estar determinados por genotipos diferentes. Se reporta un caso de condrodisplasia punctata rizomélica diagnosticado a las 32 semanas de edad gestacional. Se discuten los hallazgos ultrasonográficos así como la forma de presentación de otras variedades de condrodisplasia punctata.