Regional odontodysplasia diagnosed and treated via multidisciplinary approach: a case report.

Regional odontodysplasia (RO) is a rare non-hereditary dental anomaly associated with dysplasia. Its etiology remains unclear but is known to affect both the mesodermal and ectodermal dental components, as well as deciduous and permanent dentitions. Its young age of onset and complexity has great physical and psychological impact on the affected patients. However, the clinical management of RO remains unified without standardized treatment guidelines. Thus, this study aimed to report an RO case, the first from Jiangxi Province, China, and discuss its clinical diagnosis and treatment to provide a reference to treat similar cases more effectively in the future.

Singleton-Merten syndrome: A rare cause of femoral head necrosis.

Singleton-Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first-to the best of our knowledge-direct association of SMS with femoral head necrosis (FHN). The following case report presents the condition of a 38-year-old male suffering from SMS with FHN, characterized by acute symptoms and rapid disease progression. As per the recommendations of the Association Research Circulation Osseous (ARCO) and the S3-guidelines, we successfully treated the FHN with core decompression. Our histological results correlate with the changes described in medical literature in patients with SMS and MDA5-knockout in vivo experiments such as osteopenia, widened medullary cavity, and thin cortical bone. Moreover, the conducted immunohistochemistry shows strong CD56 positivity of the osteoblasts and osteocytes, as well as significant CD68 and CD163 positivity of the middle-sized osteoclasts. Collectively, these findings suggest an underlying syndrome in the FHN. A six-month post-operative follow-up revealed complete recovery with the absence of the initial symptoms and ability to resume normal daily activities. Taken together, our findings suggest that SMS is an additional cause of FHN in young adults. Early detection and adequate treatment using well-established joint-preserving techniques demonstrate a favorable improvement of the patient's clinical condition.

Hereditary Disorders of Cardiovascular Calcification.

Arterial calcification is a common phenomenon in the elderly, in patients with atherosclerosis or renal failure and in diabetes. However, when present in very young individuals, it is likely to be associated with an underlying hereditary disorder of arterial calcification. Here, we present an overview of the few monogenic disorders presenting with early-onset cardiovascular calcification. These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered purine and phosphate/pyrophosphate metabolism, (2) interferonopathies, and (3) Gaucher disease. The finding of arterial calcification in early life should alert the clinician and prompt further genetic work-up to define the underlying genetic defect, to establish the correct diagnosis, and to enable appropriate therapy.

Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome.

Singleton Merten Syndrome is an autosomal dominant disorder of unknown origin. Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcification and musculoskeletal abnormalities. In this case, we present a young girl with a history of aortic root replacement, who had an unusual progressive supra-aortic stenosis managed with urgent surgery during the course of the syndrome. Cardiovascular involvement needs special attention, since it is the major cause of mortality along with rhythm disturbances in the course of Singleton Merten Syndrome.

Análise histopatológica de lesões leucoqueratósicas da mucosa oral avaliadas pelos exames de luminescência, cromoscopia e microscopia confocal reflectante / Histological analysis identified and assessed by tests of luminescence, chromoendoscopy and confocal reflectance leukokeratosis lesions

O câncer de mucosa oral é um problema de saúde pública, com maior incidência em homens acima de 50 anos. Uma das manifestações clínicas mais precoces do câncer da mucosa oral são as lesões leucoqueratósica. O aspecto clínico não homogêneo e o tamanho maior de 200mm2, em mucosa não queratinizada como a do assoalho da boca e ventre da língua, são aspectos que implicam na possibilidade de evolução da lesão. A dificuldade do diagnóstico das lesões precoces está na seleção do local a ser biopsiado principalmente frente a lesões extensas e heterogêneas. O objetivo desta pesquisa é avaliar se a utilização do exame clínico juntamente com os métodos auxiliares de diagnóstico das lesões leucoqueratósica da mucosa oral (VELscope®, Azul de toluidina e Solução de lugol) contribui para uma maior precisão do diagnóstico de displasias nestas lesões quando comparado ao histopatológico. E, identificar os padrões morfológicos destas lesões quando avaliadas por meio da microscopia confocal reflectante. Foram selecionados 30 pacientes, maiores de 18 anos, portadores de lesão clínica compatível com leucoplasia oral triados no ambulatório da disciplina de Estomatologia Clínica da Faculdade de Odontologia da Universidade de São Paulo e que precisavam ser submetidos à biópsia para o estabelecimento do diagnóstico final. Foram realizados os testes de Azul de Toluidina, Solução de Lugol, VELscope®, microscopia confocal reflectante e posteriormente, a biópsia incisional para obtenção do diagnóstico final. Os pacientes incluídos possuíam média de idade 60,66 anos, sendo 70% (21/30) do gênero feminino e 30% (9/30) do gênero masculino. O tabagismo foi relatado por 16,7% (5/30) dos pacientes, sendo 60% (3/5) homens. A associação do tabagismo e etilismo foi relatada em 10% (3/30) dos pacientes, o tabagismo isoladamente por 6,6% (2/30) e o de etilismo por 3,3%(1/30)...

Cancer of the oral mucosa is a public health problem, with higher incidence in men above 50 years. One of the earliest manifestations of cancer of the oral mucosa lesions are leukokeratosis. The inhomogeneous clinical aspect and the larger size of 200mm2 in non-keratinized mucosa as the floor of the mouth and constipation of the tongue, are aspects that imply the possibility of evolution of the lesion. The difficulty of diagnosis of early lesions is in the selection of the site to be biopsied primarily against large and heterogeneous lesions. The objective of this research is to evaluate the use of clinical examination along with diagnostic aids leucoqueratósica of oral lesions (VELscope ®, Toluidine blue and Lugol solution) methods contributes to greater accuracy of diagnosis of dysplasia in these lesions when compared the histopathological. And identify the morphological patterns of these lesions when evaluated by reflectance confocal microscopy. 30 patients older than 18 years, with clinical lesion compatible with oral leukoplakia screened in the outpatient discipline of Clinical Dentistry, Faculty of Dentistry, University of São Paulo and that needed to be biopsied to establish the final diagnosis were selected. Tests toluidine blue, Lugol's solution, VELscope ®, reflectance confocal microscopy (RCM) and subsequently, incisional biopsy to obtain the final diagnosis were performed. Patients enrolled had a mean age 60.66 years, 70% (21/30) were female and 30% (9/30) were male. Smoking was reported by 16.7% (5/30) of patients, 60% (3/5) homens.A association of smoking and alcohol use was reported in 10% (3/30) of patients, smoking alone by 6.6% (2/30) and of alcoholism by 3.3% (1/30)...

Clinical and radiological presentation of hemimaxillofacial dysplasia/segmental odontomaxillary dysplasia: critical analysis and report of a case.

OBJECTIVES: The purpose of the present study was to critically evaluate the literature, describe the clinical and radiographic features of HD-SOD (hemimaxillofacial dysplasia/segmental odontomaxillary dysplasia), and describe one new case, involving a 12-year-old boy, with detailed radiological, clinical, and histologic characteristics. METHODS: Thirty-six cases published between 1987 and 2010, together with the present case, were evaluated according to criteria that included gender, age, location of the lesion, findings, and symptoms. RESULTS: We found that the lesion is discovered mainly in the first decade of life (71%), and has a male predilection (64%, 23/64). The maxillary alveolar process was affected unilaterally in all cases, with gingival and bone enlargement and facial asymmetry being constant findings. Missing premolars and skin manifestations were found to be common features. CONCLUSIONS: New case reports should include clinical, radiographic, and histologic findings; follow-up reports; and treatment protocols to improve dentist and parent information regarding HD.

Pansinusitis y afectación intracraneal por implante dental / Pansinusitis and intracranial impact of a dental implant

Las sinusitis odontógenas son una patología relativamente frecuente causada por infecciones dentales, quistes periapicales así como tras procedimientos bucodentales como una endodoncia, una elevación sinusal o la colocación de un implante. A continuación se presenta un caso extremo de una pansinusitis derecha con fistulización a espacio epidural causada por un implante osteointegrado. Ante la sospecha de una sinusitis maxilar de origen odontogénico se debe iniciar rápidamente un tratamiento antibiótico correcto y un seguimiento estrecho ya que pueden tener consecuencias fatales como la pérdida de un ojo, abscesos cerebrales o incluso la muerte(AU)

Odontogenic sinusitis is a relatively common disease caused by dental infections, periapical cysts and oral procedures such as root canal, sinus lift or implant placement. We report an extreme case of a right pansinusitis with an epidural space fistula caused by osseointegrated implants. When maxillary sinusitis of odontogenic origin is suspected, we should quickly start effective antibiotic treatment and monitor the patient closely because odontogenic sinusitis can have serious consequences, such as the loss of an eye, brain abscess or death(AU)

Etiology of burning mouth syndrome: A review and update

Introduction: Burning mouth syndrome (BMS) is characterized by an oral burning sensation in the absence of anyorganic disorders of the oral cavity. Although the cause of BMS is not known, a complex association of biologicaland psychological factors has been identified, suggesting the existence of a multifactorial etiology.Material and Method: A PubMed/Medline search was used to identify articles describing the different hypothesesregarding the etiology of BMS, as well as the psychological and anatomical data upon which such hypotheses arefundamented.Results: A review and update was made of the different hypotheses relating to the etiology of BMS (psychogenicfactors, hormone disorders, neuropathic alterations, oral phantom pain, neuroplasticity and neuroinflammation),with a view to globally establishing possible relationships among them.Conclusions: In-depth investigation is needed to clarify the etiopathogenic mechanisms of BMS and its triggeringfactors, in order to develop effective and individualized management strategies that can be extended to patients ineach different BMS subgroup (AU)

Regional odontodysplasia involving three quadrants of the jaws: a case report.

Regional odontodysplasia is a rare developmental anomaly of the teeth that affects enamel and dentin. Its etiology is unknown, but the most accepted theory refers to circulatory disorders associated with vascular nevi. An uncommon case of regional odontodysplasia involving three quadrants of the jaws is reported. An 8-year-old boy was referred to the authors' institution with lack of teeth as a major symptom. There was no hereditary anomaly in the family. Extraoral examination revealed a brown discoloration on the skin on the right side of the face, neck, and chest. Detailed intraoral examination showed hypoplastic and carious teeth. Fistulae and gingival overgrowth were also observed. Radiographically, the affected teeth presented the pathognomonic image of "ghost teeth." Conservative treatment was instituted.

Prosthetic rehabilitation of segmental odontomaxillary dysplasia: seven-year follow-up.

Segmental odontomaxillary dysplasia is an uncommon maxillofacial deformity. Clinically, overgrowth and maturation of the maxillary right or left posterior alveolus and the respective gingiva, lack of premolars, delayed eruption of the adjacent teeth, and malformed primary molars are observed. The purpose of this report was to describe the clinical and radiographic findings of a 47-year-old female with segmental odontomaxillary dysplasia and summarize the prosthetic rehabilitation with fixed and removable partial dentures. A 7-year follow-up did not reveal biomechanical or functional problems except the loss of the mandibular left central incisor and wear of the artificial teeth.

Regional odontodysplasia of the deciduous and permanent teeth associated with eruption disorders: A case report.

Regional odontodysplasia (RO) is an unusual, non-hereditary anomaly of the dental hard tissues with characteristic clinical, radiographic and histological findings. Clinically, RO affects the primary and permanent dentition in the maxilla and mandible or both jaws. Radiographically, there is a lack of contrast between the enamel dentin, both of which are less radiopaque than unaffected counterparts. Additionally, enamel and dentin layers are thin, giving the teeth a "ghost-like" appearance. Histologically, areas of hypocalcified enamel are visible and enamel prisms appear irregular in direction. Coronal dentin is fibrous, consisting of clefts and a reduced number of dentinal tubules; radicular dentin is generally more normal in structure and calcification. The RO etiology is uncertain; numerous factors have been suggested and considered as local trauma, irradiation, hypophosphatasia, hypocalcemia, hyperpyrexia. The treatment of RO has given rise to controversy. These cases require a continuous and multidisciplinary approach. Most clinicians advocate extracting the affected teeth as soon as possible and inserting a prosthetic replacement. Other clinicians prefer restorative procedures, if possible, to protect the affected erupted teeth. A case of RO in an 8 year-old male whose chief complaint was the absence of eruption of permanent teeth is presented. Clinical, radiographic and histological findings are described.

Segmental odontomaxillary dysplasia presenting with facial hypertrichosis, commissural lip clefting, and hyperlinear palms.

Segmental odontomaxillary dysplasia is a rare disorder that unilaterally affects the maxilla causing facial asymmetry and presenting with hypertrichosis and hypoplastic or missing teeth in the affected area. Lip clefting has only been reported in one other case. We report a case of segmental odontomaxillary dysplasia presenting with hypertrichosis of the face, hyperlinear palms with faint erythema, and commissural lip clefting.

Clinical and radiographic delineation of odontochondrodysplasia.

The association of dentinogenesis imperfecta (DI) with a distinct form of chondrodysplasia in a boy was reported by Goldblatt et al. [1991; Am J Med Genet 39:170-172] and has been given the name of Goldblatt syndrome or odontochondrodysplasia (ODCD; OMIM#184260). Since the original description, only four further individuals have been reported (one sib pair and two unrelated cases). We report on an additional six individuals, including a second sib pair (brother and sister), with clinical and radiographic features that cluster and thus confirm the nosologic status of this entity. The main radiographic features are congenital platyspondyly with coronal clefts, severe metaphyseal changes particularly of the hands, wrists, and knees, mesomelic limb shortening, and coxa valga. The main physical signs are short stature, joint laxity, narrow chest, scoliosis, and DI. This combination of clinical and radiographic findings allows clear recognition of this syndrome in early childhood. Of note, the signs that are present in the newborn period are not entirely specific and the differential diagnosis includes spondylometaphyseal dysplasia (SMD) Sedaghatian type or platyspondylic lethal dysplasia (PSLD) Torrance type. The occurrence of two sib pairs in a group of only 11 patients suggests an autosomal recessive inheritance pattern. Overmodification of cartilage-extracted collagen 2 has been reported in two sibs, but mutation analysis of COL2A1 as well as of COMP, FGFR3, RMRP, and SBDS in one or more patients have given negative results, and the molecular etiology is as yet unknown.

La leucoplasia oral. Su implicación como lesión precancerosa / Oral leukoplakia. A precancerous lesion

La leucoplasia es definida actualmente en base a un concepto esencialmente clínico. En este sentido, se propone un diagnóstico provisional de leucoplasia basado en criterios clínicos y un diagnóstico definitivo para el que se requiere la eliminación de los factores etiológicos y, ante lesiones persistentes, el examen histopatológico. La consideración de la leucoplasia como lesión precancerosa proviene esencialmente de los estudios de seguimiento en los que se constata su transformación maligna. Pese a que el diagnóstico de displasia es esencialmente subjetivo y a la existencia de algún trabajo reciente que no encuentra relación entre ésta y la evolución posterior de las leucoplasias, la presencia de displasia epitelial en el examen histológico se considera actualmente como el indicador más importante de una mayor probabilidad de transformación maligna de la leucoplasia. Entre otros factores relacionados con un peor pronóstico se consideran el que se trate de una leucoplasia idiopática, las formas clínicas no homogéneas, la localización en cara ventrolateral de la lengua y suelo de boca y un tamaño mayor de 1 centímetro (AU)

The current definition of leukoplakia is based on an essentially clinical concept. Therefore, both a provisional diagnosis of leukoplakia based on clinical criteria and a definite diagnosis for which etiological factors need to be eliminated and, should there be persistent lesions, a histological examination is required, are accepted. Follow up studies in which a malignant transformation has been observed have resulted in leukoplakia being considered as a precancerous disorder. Despite the fact that the diagnosis of dysplasia is subjective and certain recent studies have not found any association between this and the development of leukoplakia, the presence of epithelial dysplasia in the histological examination is currently considered to be the most important indicator of a higher possibility of malignant transformation of the leukoplakia. Among other factors that may indicate a worse prognosis are: if the leukoplakia is idiopathic, if clinical forms are non-homogenous, if it is located on the ventrolateral side of the tongue and the floor of the mouth, and if it is over 1 cm. (0.40 inches) in size (AU)

Malignización del liquen plano oral / Oral lichen planus malignancy

La complicación más importante del Liquen Plano Oral (LPO), es el desarrollo de un carcinoma oral de células escamosas (COCE). Desde 1910 en que se comunicó el primer caso en una paciente con LP, se han publicado numerosos casos, y series de casos de malignización, que nos aportan cifras que varían entre el 0 y el 12,5%de LPO malignizados, con periodos de seguimiento también muy variables, que oscilan entre 0,5 y 20 años. Pero estos estudios han sido refutados por un grupo de autores, que se cuestionan los criterios diagnósticos utilizados. Por todo ello, el potencial maligno del liquen plano oral, es un tema actualmente muy controvertido en Medicina Oral. Se realiza una revisión crítica de la literatura más actual sobre los conceptos clave, implicados en esta controversia (AU)

The most important complication of oral lichen planus (OLP), is the development of oral squamous cellcarcinoma (OSCC).From 1910 when was reported the first case in a woman suffered OLP, many cases and cases series have been reported with values from 0 to 12,5%, and with follow-up ranking from 0,5 to 20 years. But many of this cases not had been accepted by some authors who disagree with the diagnostic criteria employed. By all previously cited, the cancerization of OLP is a very controversial topic in Oral Medicine. It has been performed a critical review of the recent literature about it (AU)

Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.

Oculodentodigital dysplasia (ODDD) is a rare, autosomal dominant pleiotropic disorder, caused by mutations in the Connexin 43 (Cx43 or GJA1) gene. Described here is the case of a 10-year-old girl with enamel hypoplasia, typical facies and mental delay, initially thought to be related to an unknown metabolic disorder. Careful clinical re-evaluation revealed a type of ODDD, characterised by the predominance of facial and ophthalmological involvement with mandibular retrognathism, and by the absence of cutaneous hand or foot syndactyly. A novel single-sequence variation (Nt460A>G) in exon 2, resulting in the substitution of alanine for threonine at amino acid 154, was found. These findings confirm once again the highly variable phenotypic expression caused by Cx43 mutations.