Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report.

Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase. It is characterized by dystonia and compulsive self-mutilation, in particular, biting behavior on the oral mucosa, tongue, lips, fingers, and shoulders, typically before one year of age. The majority of these patients require several procedures, including dental extractions, to prevent significant secondary lesions. This article aims to report a clinical case of a 12-year-old boy with an LNS diagnosis who was referred to the Paediatric Stomatology Department of Central Lisbon University Hospital. Since the age of eight, the patient had displayed self-harm behavior, with arm and oral injuries. On evaluation, he presented with deep ulcerated lesions on the lips and tongue, with substance loss associated with a significant decrease in food intake and consequent weight loss. The management included conservative therapy with gabapentin, lorazepam, and botulinum toxin injections. A successful reduction of self-mutilation with no signs of new lesions in the oral cavity and an improvement in nutritional status were reported. The therapeutic approach is essential to provide the best quality of life for patients and their caregivers. To delay radical treatments, multiple therapeutic options can be used. The oral pathology team considered that the most appropriate therapy was botulinum toxin A injections along with therapeutic adjustment, which was effective in wound healing and self-mutilation behavior ceasing at the two-month follow-up.

Síndrome de Lesch-Nyhan y automutilación oral. Reporte de un caso / Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report

Resumen: Introducción: El síndrome de Lesch-Nyhan (SLN) es un trastorno hereditario recesivo relacionado con el cromosoma X, causado por la deficiencia de la enzima hipoxantina-guanina fosforribosil transferasa (HPRT). La automutilación compulsiva y distonía ocurre antes del año de edad y se expresa con mordeduras persistentes en la mucosa oral, labios, lengua, dedos y hombros. La intervención odontológica realizada en la mayoría de estos pacientes es la extracción dental múltiple para prevenir lesiones graves secundarias. Objetivo: presentar un caso clínico de SLN y describir el manejo odonto-pediátrico en pacientes con conducta automutilatoria. Caso clínico: Paciente varón, 7 años de edad, portador de SLN. Fue referido a la Unidad de Odontología desde el Departamento de Neurología Pediátrica para la evaluación y manejo de heridas autoinfligidas en dedos, labios y mejillas asociadas a una pérdida de peso y disminución de la ingesta de alimentos. El procedimiento quirúrgico consistió en extracciones dentales múltiples, y remodelación quirúrgica de las crestas alveolares residuales, bajo anestesia general. Al segundo mes posquirúrgico el paciente fue dado de alta definitivamente, con un adecuado estado nutricional y sin signos de automutilación en manos ni en cavidad oral. Conclusio nes: A pesar, que el SLN es infrecuente, es esencial saber cómo proceder para dar la mejor calidad de vida a los pacientes y sus familias. Las extracciones tempranas del diente, como fase inicial en casos severos, parecen ser la alternativa más útil para minimizar el daño y el dolor por la automutilación.

Abstract: Introduction: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive self-mutilation and dystonia occurs before the first year of age and is expressed by persistent bites on the oral mucosa, lips, tongue, fingers, and shoulders. The dental intervention performed on most of these patients is multiple tooth extraction to prevent serious secondary lesions. Objective: To present a clinical case of LNS and describe pediatric dentistry management in patients with self-mutilating behavior. Clinical case: Male patient, 7 years old, LNS carrier. He was referred to the Dental Unit from the Department of Pediatric Neurology for evaluation and management of self-inflicted wounds on fingers, lips and cheeks associated with weight loss and decreased food intake. The surgical procedure consisted of multiple extractions, surgical remodeling of the residual alveolar ridges under general anesthesia. In the second postoperative month, the patient was discharged definitively, with an adequate nutritional status and no signs of self-mutilation in hands or oral cavity. Conclusions: Although LNS is rare, it is essential to know how to proceed in order to provide the best quality of life for patients and their families. Early tooth extractions, as an initial phase in severe cases, seem to be the most useful alternative to minimize damage.

Lip and tooth injuries at public swimming pools in Austria.

BACKGROUND/AIMS: There is an increased risk of orofacial injuries in swimming pool facilities. Nevertheless, only a few studies have addressed this issue. The aim of this study was to identify the frequency of lip and tooth injuries at public swimming pools in Austria. A further aim was to examine which gender and age groups were affected, where and why these injuries occurred, and whether pool attendants had sufficient knowledge of dental first-aid measures. MATERIAL AND METHODS: A total of 764 pool attendants in Austria were contacted by telephone and 689 participated in the study (90.2%). The attendants were interviewed retrospectively about accident occurrences in 2014 by a standardized questionnaire. Responses to the provision of first aid and choice of storage medium for avulsed teeth were subsequently evaluated. RESULTS: The frequency of lip injuries was 19.0%, and tooth injuries were 11.3%. Male bathers (P < .05) and children under 12 years (P < .001) most frequently suffered injuries. The waterslide was the most common accident site. The most common cause of lip injuries was slipping on wet surfaces (39.0%), and for tooth injuries it was collisions with other persons or objects (each 28.1%). The pool attendants' responses were predominantly good or sufficient on first aid, with the exception of what storage medium to choose. Tooth rescue boxes were available in only 8.6% of all pool facilities. CONCLUSION: Orofacial injuries are a frequently occurring problem in swimming pool facilities. The pool attendants' knowledge on first-aid care of tooth injuries could still be improved.

Utilização do retalho de Karapandzic para reconstrução de lábio inferior após trauma / The use of the Karapandzic flap for reconstruction of the lower lip after trauma

A reconstrução labial representa um desafio ao cirurgião plástico. Os lábios são o centro dinâmico do terço inferior da face, sendo fundamentais para mímica e expressão facial, fala, deglutição, sucção e contenção de secreções salivares, sem esquecer-se do componente estético. Portanto, a reconstrução labial deve ter como objetivo o restabelecimento funcional da estrutura lesada e um bom resultado estético. Este artigo relata um caso de lesão labial traumática grave e sua reconstrução, com a utilização do retalho de Karapandzic. Os autores demonstram sua funcionalidade e fácil execução, assim como seu resultado final.

Lip reconstruction is a challenge to the plastic surgeon. The lips are the dynamic center of the lower third of the face, being essential for facial movements and expression, speech, deglutition, suction, and containment of salivary secretions, as well as esthetic appearance. Therefore, the objective of lip reconstruction should be functional recovery of the damaged structure and a good esthetic result. This article reports a case of severe traumatic labial injury and reconstruction, using the Karapandzic flap. The authors demonstrate its functionality and easy implementation as well as the final result.

The hemi-hamate autograft arthroplasty in proximal interphalangeal joint reconstruction: a systematic review.

Palmar lip injuries of the proximal interphalangeal joint with dorsal fracture-dislocation are difficult to treat and often require major reconstruction. A systematic review was performed and yielded 177 articles. Thirteen articles on hemi-hamate autograft were included in full-text analysis. Results of 71 cases were summarized. Mean follow-up was 36 months and mean proximal interphalangeal joint range of motion was 77°. Overall complication rate was around 35%. Up to 50% of the patients showed radiographic signs of osteoarthritis. However, few of those patients complained about pain or impaired finger motion. Based on this systematic analysis and review, hemi-hamate autograft can be considered reliable for the reconstruction of acute and chronic proximal interphalangeal joint fracture-dislocations with joint involvement >50%, but longer-term follow-up studies are required to evaluate its outcome, especially regarding the rate of osteoarthritis.

Reconstrução de lábio inferior pós-mordedura equina: descrição de técnica e revisão anatômica / Lower lip reconstruction after equine bite: technique description and anatomy review

Introdução: A cirurgia reconstrutiva do lábio, seja superior ou inferior, possibilita sua reconstrução por meio de uma variedade de técnicas cirúrgicas. Nessas reconstruções, é importante avaliar as características do tecido (cor da pele, textura), o qual sempre que possível deve ser utilizado próximo ao local da lesão, para fornecer o melhor resultado estético e funcional possível. Relato do Caso: O presente trabalho tem como objetivo descrever a técnica de Bernard-Burow para reconstrução de lábio inferior, e revisar a anatomia do terço inferior da face, por meio do relato de caso de um paciente que foi mordido por um cavalo e teve avulsão de lábio inferior e porção mentoneana e submentoneana da face.

Background: The reconstructive surgery of the lip, upper or lower, presents a variety of techniques and procedures. In reconstructive surgery of lip is important to evaluate the characteristics of tissue (skin color, texture), which wherever possible should be used near the site of injury to provide the least morbidity and best tissues in colors and texture. Case Report: This article aims to describe the Bernard-Burow technique for reconstruction of lower lip, and review the anatomy of the lower third of the face, through the case report of a patient who was bitten by a horse and had avulsion of lower lip and mentoniane portion of the face.

Queimadura elétrica labial em criança relato de caso e revisão de literatura / Electrical burns of the lip in child: case report and review of the literature

Queimaduras elétricas em lábios são raras (5,6% – 7% dos casos de queimadura elétrica),mesmo em crianças, sendo o sexo masculino duas vezes mais atingido. Por serem incomuns,são de difícil e contraditório manejo no atendimento inicial e no tratamento das sequelas.No presente trabalho é descrito um caso de queimadura elétrica em lábio em uma pacientede 2 anos. Foi submetida a tratamento cirúrgico 10 dias após a queimadura e apresentouresultado estético e funcional satisfatório após 8 meses de evolução.

Electric burn injuries in lips are rare (5.6% – 7% are the range of occurrences), even inchildren, never the less statistics shows that male patients are two times more likely to sufferthis burns. Due to the fact, that this cases are uncommon they often have difficult andcontradictory first aid protocols, as well as in the following treatment. This text reports atwo-year-old-female patient who had a lip burn injury. The patient had suffered a surgicalproceeding 10 days after the burn took place and also had presented a satisfactory functionalevolution, 8 months later.

Carcinoma epidermóide: diagnóstico e condutas imediatas / Squamous cell carcinoma: diagnosis and first behavior

O carcinoma epidermóide apresenta moderada freqüência na cavidade bucal, podendo ser considerado um problema de saúde pública. O escopo deste trabalho é apresentar o caso de um paciente portador de carcinoma epidermóide em lábio inferior, o qual foi submetido ao tratamento cirúrgico. Foram discutidas as características clínicas, radiográficas e histopatológicas, freqüência, incidência e modalidades de tratamento.

The squamous cell carcinoma is frequent in the oral cavity, and is considered an important public health concern. The purpose of this study is to present the case of squamous cell carcinoma on lip that was submitted to the surgical treatment. We discussed the clinical, radiographic and histopathologic characteristics, frequency, incidence and treatment modalities.