Displasia dentinaria tipo I: Manejo clínico y estudio histológico a propósito de dos casos / Dentin dysplasia type I: clinical management and histological study based on two cases

La displasia dentinaria tipo I (DD-I) corresponde a una alteración dentinaria de heterogeneidad genética y penetrancia completa, en donde se presenta un defecto en el desarrollo de las raíces de los dientes tanto temporales como definitivos. Clínicamente se observan dientes con extrema movilidad junto con antecedentes de exfoliación prematura o espontánea. Los defectos estructurales de los tejidos dentarios, tales como DD-I; implican un desafío ya que son pocos los casos documentados en la literatura que hablan de esta condición. Además implican un tratamiento multidisciplinario y altamente invasivo. El objetivo de este artículo es presentar dos casos de DD-I, enfatizando en su tratamiento y características histopatológicas.

Dentin Dysplasia Type I (DD-I) consists of a pathological dentinary alteration with genetic heterogeneity that results in a defectuous development of dental roots both in primary and secondary dentition. Clinically we can appreciate teeth with extreme pathological mobility and premature or spontaneous exfoliation. Alterations within normal dental structure, such as DD-I imply a challenge for the common practitioner, because of the scarce number of case reports with in the scientific literature regarding this condition and also, because of the need for a highly invasive and multidisciplinary approach they require. The aim of this article is to present two DD-I cases, emphasizing on their treatment and histopathological features.

Displasia dentinária Tipo I: relato de caso clínico / Dental dysplasia Type I: a clinical case report

As anomalias de desenvolvimento dos dentes, como a displasia dentinária, podem ser observadas durante os exames clínicos e radiográficos em alguns pacientes. O presente relato de caso discute sobre a Displasia Ectópica Dentinária (DD), sendo um distúrbio de desenvolvimento relacionado a formação da dentina que possui obliteração da polpa e defeito da formação da raiz. Descrita como uma condição rara e transmitida geneticamente. Ela pode ser dividida em tipos I e II, uma vez que ambas podem afetar as dentaduras decídua e permanente. O tratamento clínico transformou-se com o passar dos anos, sendo que o protocolo indicava a necessidade de exodontia para um tratamento menos invasivo, utilizando métodos que consistem na manutenção da higiene oral, a idade do paciente, a gravidade da doença, a extensão dos sintomas e atendimento odontológico regular. Este trabalho tem como objetivo apresentar o caso clinico de um menino de 8 anos, diagnosticado com displasia dentinária do tipo I e com presença de restaurações insatisfatórias na dentição mista. Dessa forma é significativo o planejamento adequado, em favor de melhorias na manutenção profilática... (AU)

Anomalies in the development of teeth, such as dentin dysplasia, can be observed during clinical and radiographic examinations in some patients. The present case report discusses Dentinal Dysplasia Ec topic (DD), being a developmental disorder related to the formation of dentin that has pulp oblitera tion and root formation defect. Described as a rare and genetically transmitted condition. It can be divided into types I and II, since both can affect deciduous and permanent dentures. Clinical treatment has changed over the years, and the protocol indicated the need for extraction for a less invasive treat ment, using methods that consist of maintaining oral hygiene, the age of the patient, the severity of the disease, the extent of symptoms and regular dental care. This paper aims to present the clinical case of an 8-year-old boy, diagnosed with type I dentin dysplasia and with the presence of unsatisfactory restorations in the mixed dentition. Thus, adequate planning is significant, in favor of improvements in prophylactic maintenance... (AU)

Tratamiento ortodóncico de primera fase en un paciente con displasia dentinaria tipo I / First phase orthodontic treatment of a patient with dentin dysplasia type I

La displasia dentinaria (DD) es una condición autosómica dominante que afecta tanto los dientes temporales como los permanentes. En ella se observan piezas con defectos en la forma de sus raíces, parcial o completa obliteración de las cámaras pulpares, y predisposición para formar abscesos y quistes sin una causa previa. Se describe en la población en una proporción de 1 cada 100.000 pacientes. Esta anomalía fue descrita por primera vez en 1920, pero en 1939 se lo denominó como DD y luego, en 1957, Zellner se percató de su predisposición hereditaria por lo que consideró esta lesión como un síndrome de malformación mesodérmica. Histológicamente, el esmalte y la dentina de la corona aparecen normales, las cámaras pulpares se observan de forma semilunar y casi completamente obliteradas radiográficamente. En un artículo realizado se pudo concluir que su posible etiología sería un defecto en el componente epitelial, donde la invaginación de la vaina epitelial de Hertwig ocurre tempranamente, resultando en una raíz atrofiada con cámara y conductos radiculares obliterados.

Lesão Cancerizável com aspecto clínico de lesão benigna em paciente tabagista / Malignantly injury with clinical aspect of benign lesion in smoking patients

Introdução: a mucosa bucal e seus anexos são sedes de inúmeras doenças, quer de caráter local, quer representando manifestações bucais de doenças sistêmicas. Neste contexto as lesões com potencial de malignização estão associadas principalmente ao estilo de vida, como hábitos viciosos, consumo de alimentos em temperaturas elevadas e próteses mal-adaptadas. Objetivo: relatar o caso de uma lesão cancerizável com aspecto clínico de lesão benigna. Lesões encontradas na cavidade bucal com caráter de benignidade, devido ao estilo de vida do paciente e hábitos viciosos, podem ter potencial para malignização. O cigarro tem ação química e térmica sobre os tecidos, além de ser um dos principais fatores carcinogênicos com os quais o homem mantém contato por estar presente nas três fases da carcinogênese. Além do tabaco, o gênero, etnia e idade do paciente também estão associados à malignização de lesões bucais, sendo que pacientes masculinos, leucodermas e com mais de 50 anos de idade. são considerados pacientes com risco para malignização de lesões. Relato de caso: Paciente masculino, 65 anos de idade, leucoderma, procurou atendimento odontológico apresentando um nódulo em região de mandíbula, com hipótese diagnóstica clínica de lesão de células gigantes periférica, granuloma piogênico e fibroma de irritação. Optou-se pela biópsia excisional, a qual possibilitou o diagnóstico histopatológico de displasia epitelial severa. O paciente foi encaminhado para cirurgião de cabeça e pescoço e encontra-se em acompanhamento clínico de dois anos sem indícios de recidiva da lesão. Considerações finais: justifica-se a importância do cirurgião-dentista no diagnóstico precoce de lesões cancerizáveis, que por muitas vezes se apresentam sem sintomatologia dolorosa, e apenas ao exame clínico não é possível obter o diagnóstico, necessitando-se de exames complementares, como a biópsia.

Introduction: the buccal mucosa and its annexes are the site of many diseases, both of a local nature or being oral manifestations of systemic diseases. In this context, lesions with malignant potential are associated mainly with lifestyle, such as vicious habits, food consumption at elevated temperatures and maladaptive prostheses. Objective: this study aims to report the case of a cancerous lesion with a clinical aspect of benign lesion. Lesions found in the oral cavity with benignity due to the patient's lifestyle and vicious habits may have potential for malignancy. The cigarette has chemical and thermal action on the tissues, besides being one of the main carcinogenic factors with which the man maintains contact by being present in the three phases of the carcinogenesis. In addition to tobacco, the gender, ethnicity and age of the patient are also associated with the malignancy of oral lesions, and male, leukodermal and over 50-year-old patients are considered patients at risk for malignant lesions. Case report: a 65-year-old male patient, leucoderma, sought dental care presenting a nodule in the mandible region, with clinical diagnosis hypothesis of peripheral giant cell lesion, pyogenic granuloma and irritation fibroma. We chose the excisional biopsy, which made possible the histopathological diagnosis of severe epithelial dysplasia. The patient was referred to a head and neck surgeon and is in clinical follow-up for two years with no evidence of recurrence of the lesion. Final considerations: It is stressed the importance of the dental surgeon in the early diagnosis of cancerous lesions, which often present without pain symptomatology, and only when the clinical examination is not possible to obtain the diagnosis, we need complementary tests, such as biopsy.

Orthodontic treatment of a patient with dentin dysplasia type I.

Dentin dysplasia is a genetic disorder of the teeth that affects the dentin and the pulp. Type I is sometimes called "rootless teeth," because of the loss of organization of the root dentin, which often leads to a shortened root length. The purpose of this article was to present a rare clinical case of a girl who was diagnosed with dentin dysplasia type I when she was referred for an orthodontic evaluation. Panoramic and periapical radiographs showed defective root formation and areas with periapical radiolucencies in several teeth. Her Angle Class I malocclusion was successfully treated, providing esthetic and functional results, without clinical symptoms or signs of periodontitis or odontogenic infections.

Síndrome de Yunis-Varon: reporte de un caso / Síndrome de Yunis-Varon: relato de caso / Yunis-Varon Syndrome: A case report

Yunis y Varon describieron por primera vez en 1980 este padecimiento. El síndrome de Yunis- Varon es una condición autosómica recesiva rara. Se caracteriza por la displasia generalizada de huesos y dientes, además suele afectar el aparato cardiovascular y tejidos provenientes del ectodermo. El objetivo de este trabajo es presentar la imagen radiológica de una paciente con este raro síndrome de Yunis-Varon.

Yunis e Varon descreveram pela primeira vez em 1980 esta condição. A síndrome de Yunis-Varon é uma condição autossômica recessiva rara. Caracteriza-se pela displasia generalizada de ossos e dentes, além de frequentemente afetar o aparelho cardiovascular e tecidos de origem ectodérmica. O objetivo deste trabalho é apresentar a imagem radiográfica de uma paciente com esta rara síndrome de Yunis-Varon.

Yunis-Varon syndrome, described in 1980, is a rare autosomal recessive disease. It is characterized by bone and tooth dysplasia; in addition it tends to affect the cardiovascular system and tissues from the ectoderm. The objective of this case report is to present a radiological image from a patient with this rare syndrome.

Regional odontodysplasia: a case report / Odontodisplasia regional: relato de caso clínico

PURPOSE: Regional odontodysplasia (RO) is a rare condition characterized by distinctive clinical, radiographic and microscopic findings. It is presumed to be the result of a developmental disturbance that locally affects the odontogenic ectodermal and mesodermal tissues. This report describes the clinical and radiographic findings of RO and its treatment. CASE DESCRIPTION: A 15-year-old boy presented with an uncommon case of RO involving two quadrants of the jaws on the right side of his face. CONCLUSION: A complex multidisciplinary team is required to fully rehabilitate a patient affected by RO. The treatment of RO is controversial and varies according to the individual patient.

OBJETIVO: Odontodisplasia regional (OR) é uma condição rara caracterizada por achados clínicos, radiográficos e microscópicos bem distintos. É o resultado de um distúrbio de desenvolvimento bem localizado afetando tanto o ectoderma quanto o mesoderma odontogênico. Este trabalho descreveu os achados clínicos e radiográficos de um caso de OR e os tratamentos. DESCRIÇÃO DO CASO: Um menino de 15 anos de idade apresentou um caso incomum de OR envolvendo dois quadrantes dos maxilares no lado direito da face. CONCLUSÃO: Há necessidade de uma equipe multidisciplinar complexa para reabilitar inteiramente um paciente com OR. O tratamento de OR é controverso e varia de acordo com as características e resposta do paciente.

Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition.

Dentin dysplasia is a rare defect of dentin development with an autosomal dominant pattern of inheritance, which is generally divided into 2 main classes based on the clinical and radiographic appearance of the affected dental tissues: type I, which affects the root portion and type II, which affects the coronal portion of the tooth. This paper reports the case of a child aged 10 years and 8 months with both classic and atypical features of dentin dysplasia type I in the permanent dentition. Only few mandibular teeth were affected and presented clinically normal appearing crowns, moderate to severe mobility, short, blunt or almost absent roots. However, no evidence of pulp chamber obliteration or periapical radiolucencies was found. The clinical and radiographic characteristics observed in this patient are different from those reported in the literature, which suggests that this may be a variation of dentin dysplasia type I expression.

Odontodisplasia regional: relato de caso em maxila com transpasse de linha média / Regional odontodysplasia: case report in maxilla crossing the midline

Odontodisplasia regional é uma afecção rara, não-hereditária, a qual afeta o desenvolvimento do esmalte e dentina na dentição decídua e/ou permanente. A etiologia ainda é desconhecida. Em geral, esta condição é diagnosticada durante exames radiográficos de rotina e muitos casos são diagnosticados erroneamente como dentes malformados ou odontomas. Esta condição afeta duas vezes mais o sexo feminino do que o masculino e envolve com mais frequência à maxila do que a mandíbula. Esta afecção é também mencionada como "dentes fantasmas", uma vez que os dentes afetados, radiograficamente, não apresentam distinção dos limites entre o esmalte e a dentina; e a câmara pulpar se apresenta alargada. Clinicamente os dentes são vistos com uma coloração castanha ou amarelada. O presente trabalho apresenta um caso clínico de odontodisplasia regional, não usual, que cruza a linha média da maxila, em uma criança do sexo feminino de quatro anos de idade. Todos os dentes decíduos e permanentes superiores do lado esquerdo eram displásicos, assim como também os incisivos centrais, decíduo e permanente do lado direito.

Regional odontodysplasia is a rare, nonhereditary condition that affects the development of the enamel and dentin of the deciduous and/or permanent teeth. The etiology is still unknown. In general, this condition is diagnosed during routine radiographic assessments and many cases are mistaken for malformed teeth or odontomas. This condition affects twice as many females as males and is more common in the maxilla than the jaw. This condition is also called "ghost teeth" because the enamel-dentine border of the affected teeth cannot be distinguished in the radiograph and the pulp chambers are wide. Clinically, the teeth are brownish or yellowish. The present study reports an unusual case of maxillary regional odontodysplasia crossing the midline in a 4-year-old female. All deciduous and permanent teeth in the left side of the maxilla and the central incisors in the right side of the maxilla were dysplastic.

Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition

Dentin dysplasia is a rare defect of dentin development with an autosomal dominant pattern of inheritance, which is generally divided into 2 main classes based on the clinical and radiographic appearance of the affected dental tissues: type I, which affects the root portion and type II, which affects the coronal portion of the tooth. This paper reports the case of a child aged 10 years and 8 months with both classic and atypical features of dentin dysplasia type I in the permanent dentition. Only few mandibular teeth were affected and presented clinically normal appearing crowns, moderate to severe mobility, short, blunt or almost absent roots. However, no evidence of pulp chamber obliteration or periapical radiolucencies was found. The clinical and radiographic characteristics observed in this patient are different from those reported in the literature, which suggests that this may be a variation of dentin dysplasia type I expression.

A displasia dentinária é uma alteração do desenvolvimento da dentina rara, de origem autossômica dominante, o qual é geralmente dividida em 2 tipos principais baseados na aparência clínica e radiográfica dos tecidos dentais afetados: tipo I, que afeta a porção radicular e o tipo II, que afeta a porção coronária do dente. O objetivo deste trabalho é relatar o caso de um paciente de 10 anos e 8 meses de idade com ambas alterações clássicas e atípicas da displasia dentinária do tipo I na dentição permanente. Alguns dentes da arcada inferior foram acometidos, apresentando-se com coroas clinicamente normais, mobilidade dental de moderada a severa e raízes curtas ou ausentes, porém sem evidência de obliteração das câmaras pulpares e de lesões periapicais. As características clínicas e radiográficas observadas neste paciente foram diferentes daquelas relatadas na literatura, o que sugere que esta possa ser uma variação da expressão da displasia dentinária do tipo I.

Odontodisplasia regional: manejo endodóntico / Regional odontodysplasia: managment endodontic

La odontodisplasia Regional es una anomalía del desarrollo poco frecuente de los tejidos dentarios duros, que involucra ambos tipos de denticiones y generalmente en un solo cuadrante. Lascaracterísticas clínicas son variables e incluyen decoloración dental amarilla o amarilla café, esmalte y dentina hipomineralizados, acompañadas de gingivitis, inflamación o abscesos; radiográficamente presentan cámaras pulpares amplias, y radiodensidad disminuida de esmalte y dentina dando la apariencia de dientes “fantasma”.

The Regional odontodysplasia is a rare developmental anomaly of dental hard tissues, involving both types of dentition and usually in one quadrant. Clinical features are variable and include dentaldecoloration yellow or yellowish-brown, enamel and dentin hypomineralised, accompanied by gingivitis, swelling or abscesses. Radiographically large pulp chambers are present and decreasedradiodensity of enamel and dentin giving the appearance of "ghost teeth".

Alteraciones estructurales de los dientes / Structural alterations of teeth

El propósito de este artículo de revisión es tener conceptos y criterios de clasificación actualizados y detallados de las características clínicas, radiográficas e histológicas de las patologías que alteran las estructuras dentales, con el fin de lograr un correcto diagnóstico y realizar el tratamiento más adecuado. Estas alteraciones dentales descritas son: hipoplasia del esmalte, amelogénesis imperfecta, dentinogénesis imperfecta, displasia de la dentina y odontodisplasia regional.

The purpose of this review is to have concepts and classification criteria updated and detailed clinical, radiographic and histological pathologies that alter the tooth structure in order to achieve a correct diagnosis and make the most appropriate treatment. These dental alterations described are: Enamel hypoplasia, Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin dysplasia and Regional odontodysplasia.

Peripheral dentinogenic ghost cell tumor: a case report and review of the literature.

Dentinogenic ghost cell tumor (DGCT) is a rare neoplasm, representing 1.9% to 2.1% of all odontogenic tumors. Few cases of DGCT have been reported and only 11 show no bone involvement. A rare case of peripheral DGCT is reported, located in the anterior mandible of a 45-year-old man. The patient presented a slow painless growth in the canine region of an edentulous mandible. Radiographically, no bone involvement was registered. The lesion was enucleated and microscopically characterized by islands of epithelial cells showing ameloblastomalike features in fibrous tissue. Dysplasic dentin and ghost cells were frequently observed. Areas showing a connection between tumor cells and the overlying mucosa were also identified. Immunohistochemical analysis demonstrated positivity for pan-cytokeratin, cytokeratin-14, and 2 neural markers. Denditric cells (Langerhans cells and melanocytes) were identified inside tumoral islands. A rare case of peripheral DGCT is reported, with immunohistochemical analysis and a review of the English literature.

Correlación clínico - patológica de lesiones diagnosticadas inicialmente como leucoplasia bucal y el diagnóstico histopatológico de displasia epitelial en una muestra de 11250 pacientes adultos Facultad de Odontología Universidad Central Venezuela / Correlation clinical - pathological lesions initially diagnosed as oral leukoplakia and histopathological diagnosis of epithelial dysplasia in a sample of 11250 adult patients Facultad de Odontología Universidad Central de Venezuela

La Leucoplasia Bucal (LB) es reconocida como una lesión que presenta características histopatológicas de Displasia Epitelial (DE). La proporción de DE que progresa a carcinoma Espino Celular es variada y se encuentra en un rango de 6,6 a 36 por ciento. El objetivo de este estudio fue establecer la correlación entre LB de la mucosa bucal con diagnóstico histopatológico de DE, para tal fin se revisaron un total de 11.250 historias, pudiéndose determinar que 180 de éstas correspondían a la patología a estudiar. Estos datos fueron analizados de acuerdo a su localización anatómica, sexo, edad, grupo étnico y grado de DE, 180 casos representaron LB con diferentes grados de Displasias, de las cuales 97(52,8 por ciento) eran DE leves, 67(37,2 por ciento) DE moderadas y 18(10,0 por ciento) DE severas. La localización anatómica más frecuentemente afectada fue la mucosa del reborde alveolar con 42 casos (24,1 por ciento), seguido por la mucosa del carrillo 35 casos (19,2 por ciento). La mayor prevalencia de edad fue del grupo de 50-59años (30,2 por ciento). El sexo femenino obtuvo el mayor número de casos. 102 casos (56,4 por ciento). En cuanto al grupo étnico el caucasoideo fue el más afectado con 98 casos (53,8 por ciento). Se reportó un 43 por ciento de pacientes con hábitos tabáquicos. Al correlacionar clínico-patológicamente los casos de este estudio se pudo evidenciar que el diagnóstico clínico de Leucoplasia esta más frecuentemente relacionada con el diagnóstico histopatológico de Displasia leve

Oral Leucoplakia (OL) is a term used to describe predominantly white lesions of the oral mucous which cannot be characterized as other specific lesions and which have a potential for malignant transformation. OL is recognized as a lesion with the histopathological characteristics of epithelial dysplasia. The proportion of epithelial dysplasia (ED) which progress to spin cellular carcinomas varies within a range of 6.6 percent to 36 percent. The purpose of this study was to determine the relationship between ED of the oral mucous clinically diagnosed as Leucoplakia. To that end a total of 11,250 micro histories were reviewed, representing all the samples analized from October 1968 to December 1998. It was found that 180 of these cases reflected the pathology of interest. These data were analyzed according to their anatomical location, sex, age, ethnic group, and degree of epithelial dysplasia. 180 cases represented oral Leucoplakias with differing degrees of dysplasia, of which 97 (52.8 percent) were mild ED, 67 (37. 2 percent) were moderate ED and 18 (10 percent) were severed ED. The most frequent anatomical location reported in this study was the mucous of the alveolar ridge, with 42 cases (24. 1 percent). Next came and the cheek mucous, with 35 cases (19.2 percent). The leading age group was 50 - 59 years (30.2 percent) Females had a higher predisposition with 102 cases (56.4 percent). The Caucasian ethnic group was the most frequently affected, with 98 cases (53.8 percent). 43 percent of the patients were reported to be smokers. A clinical - pathological correlation of the cases reviewed in this study shows that Leucoplakia is most often related to histopathological diagnosis of mild dysplasia

Periodontal status of patients with dentin dysplasia type I: report of three cases within a family.

BACKGROUND: Dentin dysplasia type I (DDI) is a rare hereditary disturbance of dentin formation. It is characterized by clinically normal-appearing crowns; obliteration of pulp chambers; and short, blunted and malformed roots that are commonly associated with periodontal attachment loss (PAL). In this context, we report three cases within a family with similar clinical and radiographic features of DDI but with differing microbiologic and periodontal conditions. METHODS: A 42-year-old white female and her two daughters (25 and 10 years of age) presented with a diagnosis of DDI. Probing depth (PD), clinical attachment level (CAL), visible plaque, and bleeding on probing (BOP) were recorded. Subgingival biofilm samples were randomly collected and analyzed by checkerboard DNA-DNA hybridization. RESULTS: The mother presented 34.9% of sites with PD > or =4 mm, 41.3% of sites with CAL > or =4 mm, and 57% of sites with BOP; both daughters presented no sites with PD or CAL >3 mm and <10% of sites with BOP. Microbiologic analysis detected Gemella morbillorum, Neisseria mucosa, and Staphylococcus aureus in > or =50% of the mother's samples. The daughters showed high levels (>10(4) bacterial cells) of some periodontopathic bacteria, including members of the red (Porphyromonas gingivalis) and orange (Fusobacterium periodonticum and F. nucleatum polymorphum) complexes and beneficial species of the yellow (Streptococcus gordonii) and purple (Veillonella parvula) complexes. The mother presented high mean levels only for four tested species (N. mucosa, Prevotella melaninogenica, Treponema denticola, and V. parvula). CONCLUSION: A combination of radiographs, microbiologic analysis, and preventive professional monitoring care is important to avoid PAL and to provide oral health in patients with DDI.

Estudio genético de una familia chilena con tres fenotipos dentales diferentes / Genetic studies of a Chilean family with three different dental anomalies

Background: Congenital dental anomalies can affect up to 25 percent of the population. Aim: To report the genetic study of a family with dental anomalies. Material and methods: We studied a Chilean family presenting with three independent dental phenotypes: third molar agenesis, supernumerary teeth, and dentinal dysplasia type I. We searched for mutations in candidate genes proposed for tooth agenesis and supernumerary teeth: IRF6, FGFR1, MSX1, MSX2, PAX9, PRDM16 and TGFA. We also studied DSPP as a candidate gene for dentinal dysplasia type I. Results: We did not find mutations in FGFR1, MSX2, PAX9, PRDM16, or TGFA. We found a MSX1 mutation (G16D) in both affected and unaffected family members. Also, we found a genetic variation not described before in IRF6 in the dentinal dysplasia type I case. Conclusions: Further investigation is necessary to evaluate if these variants are functional in nature. Finally, we are reporting a mutation in DSPP in an asymptomatic 2-year-old child, which illustrates the ethical pitfalls of interpreting molecular data for genetic counseling of young and/or asymtomatic individuals.

[Genetic studies of a Chilean family with three different dental anomalies]. / Estudio genético de una familia chilena con tres fenotipos dentales diferentes.

BACKGROUND: Congenital dental anomalies can affect up to 25% of the population. AIM: To report the genetic study of a family with dental anomalies. MATERIAL AND METHODS: We studied a Chilean family presenting with three independent dental phenotypes: third molar agenesis, supernumerary teeth, and dentinal dysplasia type I. We searched for mutations in candidate genes proposed for tooth agenesis and supernumerary teeth: IRF6, FGFR1, MSX1, MSX2, PAX9, PRDM16 and TGFA. We also studied DSPP as a candidate gene for dentinal dysplasia type I. RESULTS: We did not find mutations in FGFR1, MSX2, PAX9, PRDM16, or TGFA. We found a MSX1 mutation (G16D) in both affected and unaffected family members. Also, we found a genetic variation not described before in IRF6 in the dentinal dysplasia type I case. CONCLUSIONS: Further investigation is necessary to evaluate if these variants are functional in nature. Finally, we are reporting a mutation in DSPP in an asymptomatic 2-year-old child, which illustrates the ethical pitfalls of interpreting molecular data for genetic counseling of young and/or asymtomatic individuals.

Queratoquiste odontológico con displasia moderada en su epitelio: reporte de un caso / Odontogenic keratocyst with moderate epithelial dysplasia: a case report

El Queratoquiste Odontogénico (QQO) es el segundo quiste odontogénico del desarrollo más común. Se considera una lesión localmente agresiva por su rápido crecieminto y alto índice de recidiva, además de la capacidad de transformación maligna de su epitelio. Afecta la zona posterior de la mandíbula en un 60 por ciento a 80 por ciento de los casos. Radiográficamente es radiolúcido unilocular o multilocular e involucra la corona de un diente impactado en un 25 por ciento a 40 por ciento de los casos. La displasia epitelial es una alteración en la secuencia de maduración de los queratinocitos por diversos factores, observándose microscópicamente en secciones convencionales cambios atípicos en las células epiteliales. Este trastorno se clasifica en leve, moderado y severo dependiendo hasta donde se extiendan los cambios celulares en el epitelio. Este reporte describe un QQO en el seno maxilar de un paciente del sexo femenino de 28 años de edad, a la cual se le realizó una radiografía panorámica, por presentar dolor leve facial derecho, de aproximadamente un año de evolución. Imagenológicamente se detectó una imagen lítica rodeando la corona de un diente impactado en el seno maxilar derecho. Histopatológicamente se observó cambios epiteliales atípicos, diagnósticandose como Queratoquiste Odontogénico con displasia moderada en su epitelio.