Hiperplasia muscular aberrante de la mano y síndromes de sobrecrecimiento relacionados con el PIK3CA. Serie de casos / Aberrant muscular hyperplasia of the hand and PIK3CA related overgrowth spectrum disorders. A case series study

Introducción: La hiperplasia muscular congénita de la mano esuna entidad rara, caracterizada por la presencia de músculos aberranteso accesorios en la eminencia hipotenar, que siempre se ha descrito enla literatura médica como una anomalía esporádica. El objetivo de esteartículo es informar de una serie de casos con fenotipo de hiperplasiamuscular aberrante asociada a mutaciones del PIK3CA. Material y métodos: Serie retrospectiva de casos atendidos ennuestro centro entre 2008 y 2020, con un fenotipo único en el contextode las mutaciones del PIK3CA. Resultados: Se incluyeron un total de 6 pacientes (4 masculinos y2 femeninos) con ensanchamiento de la eminencia hipotenar de la manoy arrugamiento peculiar de la piel suprayacente, asociado a desviaciónulnar de las articulaciones metacarpofalángicas. En todos los casos seobservaron grados variables de sobrecrecimiento congénito del miembroipsilateral. Se realizó biopsia cutánea por punch (5 mm de diámetro y 3-5mm de profundidad) en 4 pacientes con hiperplasia muscular y presenciade fibras musculares estriadas en dermis e hipodermis. Los estudiosgenéticos revelaron mutación del PIK3CA en 3 de los 4 pacientes, cuyotejido afectado fue enviado a analizar, con mosaicismo de entre el 3 y el8% (His1047Arg, Glu542Lys y Cys420Arg respectivamente). Conclusión: La hiperplasia muscular aberrante de la mano es unaentidad reconocida pero escasamente descrita en asociación con síndromes relacionados con el PIK3CA en la población pediátrica. A día dehoy sigue desconociéndose el papel del PIK3CA en el sobrecrecimientomuscular.(AU)

Introduction: Congenital muscular hyperplasia of the hand is ararely described entity, characterized by the presence of aberrant oraccessory muscles in the hypothenar eminence, which has been alwaysreported as sporadic anomaly in the medical literature. The aim of thispaper is to report a series of cases with a phenotype of aberrant musclehyperplasia associated with PIK3CA mutations. Material and Methods: We describe a retrospective series of casesfollowed at our institution between 2008 and 2020, with a unique phe-notypein the context of PIK3CA mutations. Results: A total of 6 patients were included (4 males and 2 females),who presented with an enlargement of the hypothenar eminence ofthe hand and peculiar wrinkling of the overlying skin, associated withulnar deviation of the metacarpo-phalangeal joints. In all cases, variabledegrees of congenital overgrowth of the ipsilateral limb were observed.Skin punch biopsy (5 mm diameter and 3-5 mm depth) was performedon 4 patients, where striated muscle hyperplasia and the presence ofstriated muscular fibers in the dermis and hypodermis were observedin all of them. Genetic studies revealed PIK3CA mutation in 3 of the 4patients whose affected tissue was analyzed, in a mosaic state rangingfrom 3 to 8% (His1047Arg, Glu542Lys, and Cys420Arg, 1 case each). Conclusion: Aberrant muscular hyperplasia of the hand is a well-recognized entity scarcely described in association with PIK3CA spec-trum disorder in the pediatric population. The role of PIK3CA in muscleovergrowth is not yet well understood.(AU)

Las tres caras de la sonrisa gingival. Revisión bibliográfica / The three faces of the gummy smile. Literature review

Hablamos de sonrisa gingival cuando se altera la armonía establecida entre los dientes, labios y encía, exponiendo más allá de 2 mm de encía coronal a los incisivos maxilares, una circunstancia que, en ocasiones, genera un problema estético para algunos pacientes. La etiopatogenia de dicha condición se resume en tres facetas: dentoperiodontal (erupción pasiva alterada y erupción activa alterada), ósea (esquelética y/o dentoalveolar) y muscular (labio superior corto e hipermovilidad labial).Una condición multifactorial como la sonrisa gingival precisa un abordaje multidisciplinar: cirugía plástica periodontal, ortodoncia, cirugía ortognática, reposición labial, infiltración de toxina botulínica y tratamiento estético complementario

The excessive gingival display when a patient smiles (from 2 mm or more) is known as gummy smile. When the harmony established between the teeth, lips and gum is altered, exhibiting short clinical crown of the maxillary anterior teeth, in occasions generates an aesthetic problem for some patients.There are different etiologies of gummy smile, it concludes in three facets: dentoperiodontal (Altered Passive Eruption and Altered Active Eruption), bone defect (excessive vertical bone growth, dentoalveolar extrution) and muscular (short upper lip and upper lip hyperactivity), and the combination of some of these factors.A multifactorial condition requires a multidisciplinary boarding: plastic periodontal surgery, orthodontic, orthognathic surgery, lip reduction, infiltration of Botulinum toxin and complementary aesthetic treatment

Hereditary gingival fibromatosis: clinical and ultrastructural features of a new family

OBJECTIVE: This article describes the diagnosis, clinical and microscopic (histopathology and ultrastructural) features and treatment of a new family with hereditary gingival fibromatosis (HGF) and highlights the importance of this genetic condition. Study DESIGN: To characterize the pattern of inheritance and the clinical features, members of a new family with HGF were examined. The pedigree was reliably constructed including the four latest generations of family. Hematoxylin and eosin staining and ultrastructural analysis were performed with the gingival tissue. RESULTS: Examination of the family pedigree revealed that the patient III-2 represent the index patient of this family(initial patient with a mutation), which was transmitted to her daughter through an autosomal dominant mode of inheritance. The affected patients showed a generalized gingival overgrowth. The patient was treated with surgical procedures of gingivectomy and gingivoplasty. The diagnosis was confirmed by histopathology examination that showed a well-structured epithelium with elongated and thin papillae inserted in fibrous connective tissue with increased amount of collagen. The ultrastructural aspects of the tissue show collagen fibrils exhibiting their typically repeating banding pattern with some fibrils displaying loops at their end. Moreover, it was possible to seen in some regions fibrillar component presenting tortuous aspects and loss of the alignment among them. CONCLUSIONS: This HGF frequently resulted in both esthetic and functional problems. The genetic pattern of this Brazilian family suggested a new mutation, which was later transmitted by an autosomal dominant trait

El níquel y su vínculo con el agrandamiento gingival: Revisión de la literatura / Relationship of nickel and gingival enlargement: Review of the literature

El agrandamiento gingival es común entre los pacientes y puede ser causado por una variedad de factores etiológicos. La razón más común es la inflamación gingival provocada por mala higiene oral y alta carga bacteriana. Otros factores implicados son los medicamentos sistémicos, en donde se encuentran bloqueadores de los canales de calcio, inmunosupresores y anticonvulsivantes. Algunos crecimientos gingivales podrían estar asociados a condiciones hormonales como la pubertad, el embarazo o la diabetes o ser un síntoma de una enfermedad sistémica y en raras ocasiones el agrandamiento gingival se asocia a factores genéticos y hereditario llamado fibromatosis gingival. Otra causa del agrandamiento gingival se viene presentando en la consulta odontológica y es la relacionada con la aparatología ortodóncica fija, cuya causa específica no está totalmente definida aún. El presente artículo es una revisión narrativa cuyo objetivo es describir las generalidades del agrandamiento gingival y reportes en la literatura sobre la acción de la aparatología ortodóncica fija en el agrandamiento gingival, pues se presume del níquel como otro factor causal de esta patología

Gingival overgrowth is common among patients and can be caused by a variety of etiological factors. The most common reason is gingival inflammation caused by poor oral hygiene and high bacterial load. Other factors include systemic drugs, like channel blockers are calcium, immunosuppressants and anticonvulsants. Some gingival overgrowth are associated with hormonal conditions such as puberty, pregnancy or diabetes or be a symptom of a systemic disease and rarely the gingival overgrowth is associated with genetic factors, who is called hereditary gingival fibromatosis. Another cause of gingival overgrowth has been presented in dentistry and is related to fixed orthodontic appliances, whose specific cause is not fully defined yet. This article is a narrative review which aims to describe the generalities of gingival overgrowth and reports in the literature of the effect of fixed orthodontic appliances in gingival overgrowth because nickel probably is another factor causing this condition

Cambios histológicos en muestras de agrandamientos gingivales obtenidas a través de biopsias con electrobisturí y bisturí convencional / Histological changes in samples of gingival overgrowth biopsies obtained through conventional scalpel and electro surgical scalpel

Antecedentes: Es poco lo que se dice en la literatura sobre cambios histológicos observados en la encía y aún menos comparándolo en caso de agrandamiento gingival obtenido de tejidos humanos. Al realizar estos recortes surge la pregunta si existe alguna diferencia histológica al comparar las muestras obtenidas con electrobisturí y bisturí convencional. Métodos: Se implementó un estudio descriptivo comparativo, sobre 21 pacientes obteniendo 90 muestras. La asignación de los sitios quirúrgicos para cada uno de los tratamientos se hizo con la estrategia de control cruzado, evaluando ambos tratamientos en el mismo sujeto (electrobisturí y bisturí convencional), en forma aleatoria en ambas hemiarcadas. Los datos se incluyeron en una base de datos en Excel, se analizaron en un software estadístico STATA 9.1. Se utilizó el test exacto de Fischer, con significancia p=0,05. Resultados: Se observó carbonización y coagulación del colágeno en el 72,7% siendo superior en las muestras obtenidas con electrobisturí en el tejido conectivo, el 79,5% de diferencia de carbonización siendo superior con el electrobisturí en el tejido epitelial. Con (..) (AU)

Background. Literature Reports are scarce regarding histological changes observed on gingival tissues, but they are scarcer when gingival overgrowth from human tissues are considered. When histological slides are compared, the question arises if there are histological differences between samples obtained with electrosurgical versus conventional scalpel. Methods. A comparative study was performed in 21 patients, 90 samples. Cross control strategy was used to allocate the surgical site for each treatment, facilitating to evaluate both treatments in the same subject (electrosurgical versus conventional scalpel) in a random manner for both arches. Data was entered in an Excel data base and analyzed with STATA 9.1 statistical software. Fischer's exact test, p=0.05 significance level was used. Results. Collagen burning and coagulation were observed in 72.7% of the cases, being higher for connective tissue samples obtained with electrosurgical scalpel, 79.5% regarding burning, being higher with electrosurgical scalpel for epithelial tissue. Connective tissue showed inflammation in 95.6% of the cases for conventional scalpel, mediated by lymphocytes and plasmatic cells; neutrophils were seen in 17.8% of the sample and inflammation was seen in 100% of the samples for electrosurgical and conventional scalpels, which evidenced 97.8% lymphocytes and plasmatic cells and 37.8% neutrophils. Conclusions. Different histological phenomena were observed in gingival biopsies obtained with electrosurgical versus conventional scalpel; this facilitates understanding gingival overgrowth associated with orthodontic treatment. Some damage was observed in several biopsy samples which in some cases rendered the samples unusable for histological evaluation (AU)

Erupción pasiva alterada. Implicaciones en el tratamiento ortodóncico / Delayed passive eruption. Influence in orthodontic treatment

Para obtener la excelencia estética en el tratamiento ortodóncica no sólo es necesario conseguir un correcto posicionamiento de los dientes, además es imprescindible que el margen gingival se localice adecuadamente armonizando la sonrisa. En muchas ocasiones nos enfrentamos ante situaciones clínicas donde existe una alteración del proceso de erupción pasiva, lo que condiciona la presencia de una sonrisa gingival y unas coronas clínicas cortas que dificultan el correcto acabado de los casos ortodóncicos. En el presente artículo se repasarán los conceptos básicos que se deben tener en cuenta para el diagnóstico del proceso de erupción pasiva alterada, en qué momento debe realizarse el tratamiento y con qué técnica. Se incluyen tres casos clínicos con diferente abordaje terapeútico (AU)

To achieve aesthetic excellence in orthodontic treatment, not only a correct positioning 01 teeth is paramount but also gingival margins have to be in harmony with the smile. In many circumstances, the orthodontist is faced with clinical situations where a delayed passive eruption process exists, and the presence 01a gingival smile and short clinical crowns, thus jeopardizing a correct orthodontic finishing. In this paper, the authors will review the basic concepts behind a diagnosis of delayed passive eruption, timing of treatment and periodontal treatment technique. Three clinical cases are presented with a different treatment approach (AU)

Effectiveness of substituting cyclosporin A with tacrolimus in reducing gingivalovergrowth in renal transplant patients

Objectives: This study aims to evaluate the effectiveness of periodontal therapy combined with tacrolimus in thesuppression of gingival overgrowth (GO) and the effect on GO of changing from cyclosporin A to tacrolimus.Patients and Methods: Sixteen renal transplant patients, averaging 52 years of age, whose kidney function wasstable and were receiving treatment with cyclosporin A, were randomly assigned to one of two groups. In theexperimental group, patients were instructed in oral hygiene and underwent periodontal treatment, whereas in thecontrol group, only oral hygiene instructions were given. After the first visit and the change of medication fromcyclosporine to tacrolimus in both groups, periodic clinical revisions were carried out for 3 months in order toassess the evolution of GO.Results: All patients showed a progressive decrease in GO. There were no statistically significant differencesbetween the two groups (p>0.05). A greater decrease in GO occurred within the first month after changing themedication.Conclusions: No improved effectiveness in reducing GO was observed for periodontal therapy in combinationwith tacrolimus. Tacrolimus is an alternative to cyclosporine when attempting to avoid GO in patients with kidneytransplants (AU)

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Sobrecrecimiento gingival tras la toma de Nifedipino / Gingival over growth after takin gnifedipine

El nifedipino es un agente antagonista del calcio que por sus efectos antihipertensivos es utilizado en el control de la hipertensión arterial. Se ha descrito en la literatura científica la aparición de sobrecrecimientos gingivales tras su toma, que suelen aparecer tras varios meses del inicio de la medicación. Estas alteraciones se caracterizan por un aumento de la encía a nivel de la papila interdental, que puede cubrir parcial o totalmente la corona del diente, y se ve agravada ante la presencia de placa bacteriana en personas con higiene oral deficiente. Su tratamiento incluye la remoción correcta de la placa bacteriana con un cepillado meticuloso, la eliminación de los depósitos de sarro, la realización de curetajes gingivales, y, finalmente, la realización de gingivectomías para eliminar el tejido gingival sobrante. Aunque se trata de una alteración de carácter benigno, puede ocasionar problemas estéticos y funcionales, y puede plantear, en ocasiones, la sustitución del nifedipino por otros agentes de acción similar, cuando sea posible (AU)

Nifedipine is a calcium channel blocking which, because of its antihypertensive effects, is used to control high blood pressure. There are reports in the literature of gingival overgrowth that usually appear several months after first taking this medication. These changes are characterised by increased gum around the interdental papilla that can partially or totally cover the tooth crown, which is exacerbated by the presence of bacterial plaque in patients with poor dental hygiene. Treatment includes removal of dental plaque with meticulous brushing, removal of tartar, gingival curettage, and gingivectomies to remove excess gum tissue. Although this is a benign alteration, it can produce aesthetic and functional complications, and can occasionally lead, where possible, to nifedipine being replaced by other agents of similar action (AU)

Update on gingival overgrowth by cyclosporine A in renal transplants

El sobrecrecimiento gingival severo es uno de los efectos adversos más frecuentes en los pacientes con transplante renal asociado al suministro de ciclosporina A. Se han realizado hipótesis sobre diversas asociaciones con la edad, sexo, dosis, duración de la terapia o intervalo desde el transplante. Se ha propuesto la introducción de la alternativa de drogas inmunosupresoras para permitir mejores resultados a largo plazo del transplante y la disminución en la incidencia de sobrecrecimiento gingival. El objetivo del presente estudio es resumir el conocimiento actual, observando la etiología, patogénesis y dirección del sobrecrecimiento gingival inducido por la ciclosporina A

Severe gingival overgrowth is one of the most frequent side effects in renal transplant patients associated with assumption of cyclosporine A. Several associations with age, sex, dosage, duration of therapy or interval since transplantation have been hypothesized. The introduction of alternative immunosuppressant drugs have been suggested to permit better long-term transplant outcomes and a decrease in incidence of gingival overgrowth. The aim of the present paper is to summarize current knowledge regarding aetiology, pathogenesis and management of gingival overgrowth induced by Cyclosporine A

Erupción pasiva alterada. Repercusiones en la estética dentofacial / Altered passive eruption. Repercussions on dento-facial aesthetics

Las alteraciones en la erupción pasiva, en las que el tejido blando cubre en exceso la corona anatómica del diente, son situaciones que se presentan en nuestras consultas con gran frecuencia. Sin embargo es elevado el número de ocasiones en las que no se realiza un adecuado diagnóstico, y es reducida la bibliografía sobre el tema. El tratamiento quirúrgico, antecedido de una minuciosa exploración y diagnóstico diferencial estará indicado ante la imposibilidad de mantener un adecuado estado de salud periodontal, cuando sean necesarios tratamientos restauradores, cuando el exceso de encía dificulte el tratamiento de ortodoncia o ante una situación de compromiso estético. En estos casos el procedimiento quirúrgico preferible, es la cirugía a colgajo, que permite acceso a la superficie ósea y su remodelado, ya que es muy frecuente que en estas situaciones se encuentre alterado

The altered passive eruption, in wich the soft tissues cover excessively the clinical crown, is a situation that frequently appeasr in our office. These entities are often missed or misdiagnosed and are rarely documented in dental literature. The surgical treatment will be indicated, after a meticulous exploration and differential diagnosis, if it is impossible to maintain an adequate periodontal status, when restorative proceeds are needed, when the amount of gingiva obstructs orthodontic treatment, or in aesthetic compromises. The surgical treatment of choice in the flap procedure, which provides access to the osseous surface and allows for its recontouring, since it is very commonly altered in these situations