Defectos bucodentales en personas con síndrome de Down: una prioridad en salud bucal / Oral-dental defects in people with Down's syndrome: a priority in oral health

RESUMEN El síndrome de Down con frecuencia se acompaña de defectos bucodentales que comprometen la función masticatoria y fonatoria del paciente. Las acciones de prevención y promoción de salud bucal, el diagnóstico precoz y seguimiento de estas enfermedades, contribuyen al logro del verdadero enfoque interdisciplinario que demandan estos pacientes, para lograr una plena inclusión social. Se realizó una búsqueda bibliográfica sobre el tema, con el objetivo de estructurar los referentes teóricos relacionados con los principales defectos bucodentales -congénitos y adquiridos- que afectan a la población con síndrome de Down, para lograr la prevención de estos defectos y el incremento de la calidad de vida de los pacientes. Los defectos bucodentales congénitos más frecuentes encontrados en la trisomía 21, fueron la microdoncia, la macroglosia y la erupción dental tardía. La enfermedad periodontal fue el defecto adquirido de mayor presentación, al que se asocian diversos factores de riesgo, muchos modificables. Las intervenciones tempranas en salud bucal pueden incrementar la calidad de vida de los niños y adultos que padecen este trastorno, ayudándolos a lograr un pleno desarrollo como seres humanos (AU).

ABSTRACT Down's syndrome is frequently accompanied by oral-dental defects compromising the masticatory and phonatory function of the patients. Oral health promotion and prevention actions, precocious diagnosis and follow-up of these diseases contribute to achieving the true interdisciplinary approach these patients demand to reach their full social inclusion. A bibliographic search on the theme was carried out, with the objective of structuring the theoretical referents related to the main oral-dental defects -congenital and acquired-, affecting the population with Down's syndrome to reach these defects prevention and increasing these patients' life quality. The congenital oral-dental defects more commonly found in trisomy 21 were microdontia, macroglossia, and delayed tooth eruption. Periodontal disease was more frequently found acquired defect, to which several risk factors are associated, many of them modifiable. Early interventions in oral health may improve the life quality of these children and adults, helping them to achieve a full development as human beings (AU).

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility. However, there are limited published data on the dental manifestations of EDS. This review systematically assessed the spectrum of published dental anomalies in various types of EDS. Twenty-four individual case reports/series and 3 longer case-control studies, reporting on a total of 84 individuals with a clinical diagnosis of EDS, were included in the data analysis. The main dental features listed in classical EDS were pulp calcification and localized root hypoplasia. Common dental abnormalities observed in vascular EDS were pulp shape modifications (52.2%), exceeding root length (34.8%), and molar root fusion (47.8%). Dentinogenesis imperfecta is a consistent finding in osteogenesis imperfecta/EDS overlap syndrome. Data on dental manifestations in other types of EDS are both rare and generally inconclusive.

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.

BACKGROUND: Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatological, cardiovascular, optic, or hearing disorders). However, it does not always present this way. Recent reports have suggested that genome-wide sequencing is an effective method for identifying rare or new disorders. Here, we performed whole-exome sequencing (WES) in a patient with a unique form of acquired, local osteodysplasia of the oral and maxillofacial region. CASE PRESENTATION: A 46-year-old woman presented to our hospital with the complaint of gradually moving mandibular teeth (for 6 months), changing facial appearance, and acquired osteolysis of the oral and maxillofacial bones, showing mandibular hypoplasia without family history. Upon skeletal examination, there were no abnormal findings outside of the oral and maxillofacial area; the patient had a height of 157 cm and bone mineral density (according to dual energy x-ray absorptiometry) of 90%. Results of blood and urine tests, including evaluation of bone metabolism markers and neurological and cardiovascular examinations, were normal. We performed WES of genomic DNA extracted from the blood of this patient and her mother, who did not have the disease, as a negative control. We identified 83 new missense variants in the patient, not detected in her mother, including a candidate single nucleotide variant in exon 14 of PCNT (pericentrin). Critical homozygous or compound heterozygous variants in PCNT are a known cause of microcephalic osteodysplastic primordial dwarfism type II accompanied by mandibular hypoplasia, which is similar to the maxillofacial phenotype in this patient. CONCLUSIONS: Protein simulations performed using Polymorphism Phenotyping v2 and Combined Annotation Dependent Depletion software indicated that this missense variant is likely to disrupt the PCNT protein structure. These results suggest that this is a new form of osteolysis related to this PCNT variant.

Síndrome de Morquio, enfermedad de interés para la odontopediatría: presentación de un caso / Morquio syndrome, a disease of interest for pediatric dentistry: case report

El Síndrome de Morquio es un trastorno de almacenamiento de mucopolisacáridos se caracteriza principalmente por estatura corta y afectación ósea grave, pero el coeficiente intelectual es normal. La prevalencia es rara se estima que afecta a uno de cada 200.000 nacimientos hombres y mujeres por igual. La MPS IV A y B son enfermedades autosómicas recesivas con esto queremos decir que ambos progenitores son portadores del mismo gen afectado el cual se encuentra alterado produciendo así una deficiencia en la producción de la enzima. Las manifestaciones esqueléticas en esta displasia son retardo en el crecimiento, hipoplasia del odontoides, cifosis toracolumbar, displasia de cadera, genu valgo, manchas cutáneas y laxitud articular, en cuando a cuestiones dentales tenemos: el esmalte es delgado, rugoso e hipoplásico afectando dientes deciduos como permanentes. Se presenta el caso de un paciente masculino de 8 años 3/12 presentando MPS el cual requiere un protocolo de rehabilitación lo cual se realiza en el área de odontopedriatría del Hospital del Niño DIF.

Morquio syndrome is a mucopolysaccharide storage disorder is mainly characterized by short stature, severe bone involvement, but IQ is normal. The prevalence is rare is estimated to affect one in every 200,000 births men and women alike. The MPS IV A and B are autosomal recessive diseases with this we mean that both parents are carriers of the same gene affected which is altered thus producing a deficiency in the production of the enzyme. The skeletal manifestations in this dysplasia are growth retardation, hypoplasia of the odontoid, thoracolumbar kyphosis, hip dysplasia, genu valgus, skin blemishes and joint laxity, then dental issues are: the enamel is thin rugged and hypoplastic affecting deciduous theeth as permanent. The case of a male patient presenting eight years 3/12 MPS which requires a rehabilitation protocol which is done in the dental area of Hospital del Niño DIF is presented.

Single-rooted primary first mandibular molar.

Morphological variations like single-rooted molar in primary dentition are scarce. Understanding the root canal anatomy and variations is necessary for successful root canal therapy. The purpose of the present article is to report successful endodontic treatment of primary left mandibular first molar with an abnormal morphology of a single root. This case report highlights the importance of knowledge and its applications in the management of anomalous anatomic variants which play a crucial role in the success of endodontic treatment.

Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation.

We report on a mother and son who were affected with split hand-split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic nails. Their hair was wiry, brownish, and slow-growing. Scanning electron micrography of their scalp hair showed hypoplastic hair bulbs, partial loss of hair cuticles, and frayed hair shafts. The son was affected with amelogenesis Imperfecta (hypocalcification, hypoplasia, and hypomaturation types), in the primary and permanent dentition. An unerupted supernumerary maxillary second premolar and fusion of mandibular incisors were observed in the primary dentition and their permanent successors. Mutation analysis showed a c.588-2A > C mutation in TP63 in the mother and her son. It is predicted that an alternative splice site was used, specifically the AG located just three nucleotides upstream. Use of this site is predicted to include three extra nucleotides in the transcript and thus incorporation of a single extra amino acid (p.Thr195_Tyr196insPro). This is the first time that amelogenesis imperfecta, fusion of teeth, and a supernumerary premolar have been shown to be associated with a TP63 mutation.

The dental pathology of northern elephant seals (Mirounga angustirostris).

Skulls (n=104) of northern elephant seals from California were examined macroscopically. The animals varied in age but the numbers of each sex were roughly equal. The majority (86%) of teeth were available for examination. The mandibular first premolars were the most common teeth to be congenitally absent, with 2.3% missing. Supernumerary teeth (usually a supplemental mandibular molar) were associated with only 1.4% of normal teeth (or empty alveolar sockets). At least one persistent deciduous tooth was present in 38% of skulls, 70% of which were juvenile skulls. The majority (95.8%) of premolars had the type 2a tooth form, with only 3.8% and 0.5% of type 2b and 2c, respectively. Forty-six skulls, of which 43 were from adults, showed signs of attrition. Tooth fractures were uncommon, affecting only 33 teeth (1.2%). One skull showed an "incremental line" suggestive of enamel hypoplasia. Periodontal hard tissue lesions were seen in 44.3% of all teeth present (46.0% of skulls). Six cases of periapical disease with bone loss were observed.

Mineral metabolism and microstructural defects in primate teeth.

There are numerous structural defects that occur in primate teeth due to variable calcification during certain growth stages. These interruptions are usually areas of hypomineralization in enamel and dentin which are referred to as Striae of Retzius and Hunter Shreger bands in the enamel or Incremental Lines of von Ebner and Contour Lines of Owen in the case of the dentin. The frequency of occurrence of these variations in mineralization can be related to such factors as growth tempo, dietary quality, state of health, and past disease episodes. Another structure that appears in the dentin is a region that fails to calcify and is referred to as Inter-globular Dentin. Our studies have shown that the microstructural quality of different species' dentition varies widely. Samples obtained from certain fre-ranging cercopithcoids show that these species have the least hypomineralizations while man has the most. Other primate species range between these two extremems with the pongids nearer to man in these characteristics, as previously noted by Sognnaes. Additionally, out initial study shows a great deal of diversity between prehistoric human populations in the microstructural quality of their teeth. We offer the tentative explanation that this variation is due to differences in the calcitying properties of the diet and hence a difference in the general state of their health.