Assuntos
Bleomicina , Macroglossia , Escleroterapia , Humanos , Macroglossia/cirurgia , Macroglossia/etiologia , Macroglossia/terapia , Bleomicina/uso terapêutico , Escleroterapia/métodos , Anormalidades Linfáticas/terapia , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/cirurgia , Antibióticos Antineoplásicos/uso terapêutico , Terapia Combinada , Feminino , Masculino , Tomografia Computadorizada por Raios XRESUMO
The aim of this study was to evaluate the postoperative course and long-term functional and aesthetic outcomes in patients with Beckwith-Wiedemann syndrome (BWS) following surgical reduction of macroglossia, using multiple questionnaires. Patients with BWS who underwent keyhole reduction for macroglossia were included in this study. The postoperative course for each patient was recorded, and multiple questionnaires were administered to evaluate aesthetic concerns, oral incompetence or feeding difficulties, sleep-disordered breathing symptoms, and speech. Nine patients underwent ten reduction glossoplasty surgeries. The mean age at surgery was 22 months. The postoperative course for each case was uneventful, except for one patient who had wound dehiscence. The questionnaires revealed significant improvements in tongue appearance, feeding, drooling, facial appearance, and psychosocial outcomes. There was also a significant reduction in sleep-disordered breathing symptoms after surgery. Keyhole reduction glossoplasty is a safe and effective procedure for the treatment of macroglossia in BWS patients, with excellent functional and aesthetic outcomes and a low complication rate.
Assuntos
Síndrome de Beckwith-Wiedemann , Macroglossia , Humanos , Macroglossia/cirurgia , Síndrome de Beckwith-Wiedemann/cirurgia , Síndrome de Beckwith-Wiedemann/complicações , Masculino , Feminino , Lactente , Resultado do Tratamento , Pré-Escolar , Inquéritos e Questionários , Glossectomia/métodos , Estética , Procedimentos de Cirurgia Plástica/métodosRESUMO
Sturge- Weber syndrome (SWS), is a rare neuro-cutaneous angiomatosis which affects male and females alike. The clinical manifestations include angiomas, haemangiomas of the lips, tongue and palatine region. The oral manifestations are usually unilateral and are susceptible to bleed. Patients can also present with macroglossia and maxillary bone hypertrophy which can lead to malocclusion of the oral cavity. Food accumulation due to occlusion can cause growth of bacteria which can intensify infections and can cause gingival hyperplasia. A case of a middle-aged 39 year old female was reported in the Ziauddin Hospital, Karachi on 2nd of February,2022 with the presenting complaints of intermittent fever and drowsiness for 10 days. On examination she had massive tongue enlargement, drooling, malocclusion, difficulty in eating and breathing. She was a known case of Sturgeweber syndrome. Based on the clinical and radiological findings, she was managed along the lines of prelaryngeal soft tissue and submandibular infection.
Assuntos
Hemangioma , Macroglossia , Macroglossia/congênito , Má Oclusão , Síndrome de Sturge-Weber , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto , Síndrome de Sturge-Weber/complicações , Síndrome de Sturge-Weber/diagnóstico , Macroglossia/etiologia , HipertrofiaRESUMO
Objective: This review was conducted to define the natural history of unoperated Beckwith-Wiedemann syndrome (BWS) macroglossia and the effect of tongue reduction surgery upon breathing, eating, speaking and dentoskeletal development in individuals having BWS. Design: This is a retrospective study of medical records. SETTING: All patients were evaluated and treated in one of two Children's Hospitals by an ACPA approved Craniofacial Team. PATIENTS/PARTICIPANTS: Medical records were reviewed of 526 individuals having a diagnosis of BWS and evaluated in-person by a single craniofacial surgeon between 1986 and 2014 in conjunction with a series of multi-disciplinary craniofacial team colleagues. 28 individuals were excluded having had multiple tongue reductions elsewhere. 498 individuals comprise the "pre tongue-reduction group". The "post tongue-reduction group" consists of 391 individuals who underwent surgical tongue reduction by one surgeon using one technique between 1986 and 2014. MAIN OUTCOME MEASURES: The primary outcome measure was change in anterior dental occlusion following tongue reduction surgery. Tongue reduction surgery was performed on the assumption that it would improve dentoskeletal relationships. Secondary outcome measures were: breathing, feeding/swallowing, and speech. Results: A significant difference (p<0.001) over time between the two groups was found with less anterior occlusal abnormality in the tongue reduction group. Tongue reduction surgery had no mortality and minimal morbidity for breathing, feeding/swallowing, and speech and can ameliorate obstructive sleep apnea. Conclusions: Surgical tongue reduction for BWS macroglossia is recommended for the infant or child in primary dentition with a grossly abnormal anterior tooth/jaw relationship and/or obstructive sleep apnea.
Assuntos
Síndrome de Beckwith-Wiedemann , Macroglossia , Macroglossia/congênito , Apneia Obstrutiva do Sono , Criança , Lactente , Humanos , Macroglossia/cirurgia , Estudos Retrospectivos , Língua/cirurgia , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/cirurgia , Apneia Obstrutiva do Sono/cirurgiaRESUMO
Introduction: Macroglossia as a clinical manifestation of systemic amyloidosis is a rare condition, occurring in less than 9% of all types of amyloidosis. The aim of this report is to present the diagnostic approach of a patient with macroglossia, providing a systematic approach and considering relevant diagnostic possibilities during their evaluation. Clinical case: We present the case of a 60-year-old man who presented with a progressively enlarging giant tongue for six months, causing dysphagia and reduced oral opening. A tongue biopsy was taken, which histopathologically exhibited homogenous eosinophilic amyloid-like material. Congo red staining showed amyloid material with red dye under light microscopy and apple-green birefringence under polarized light. Bone marrow biopsy showed 30% plasma cells, allowing for a definitive diagnosis of soft tissue amyloidosis. Although it is a benign lesion, localized amyloidosis should be differentiated from systemic forms. Conclusions: The approach of patients with macroglossia is complex due to the diagnostic possibilities, from endocrinological causes, neoplastic, and even by deposit; Being an isolated sign in a patient is a challenge in its approach, because the involvement of the airway is the main complication to avoid in these patients.
Introducción: la macroglosia, como manifestación clínica de la amiloidosis sistémica, es una condición poco frecuente, ya que ocurre en menos del 9% de todos los tipos de amiloidosis. El objetivo de este informe es presentar el abordaje diagnóstico de un paciente con macroglosia, proporcionando un enfoque sistemático y considerando las posibilidades diagnósticas relevantes durante su evaluación. Caso clínico: presentamos el caso de un hombre de 60 años que presentó una lengua gigante de crecimiento progresivo durante seis meses, lo que causó disfagia y reducción en la apertura oral. Se realizó una biopsia de la lengua, la cual histopatológicamente exhibió material homogéneo similar a un amiloide eosinofílico. La tinción de rojo Congo mostró material amiloide con colorante rojo bajo microscopía óptica y con birrefringencia verde manzana bajo luz polarizada. La biopsia de médula ósea mostró un 30% de células plasmáticas, lo que permitió realizar un diagnóstico definitivo de amiloidosis de tejidos blandos. Aunque se trata de una lesión benigna, la amiloidosis localizada debe diferenciarse de las formas sistémicas. Conclusiones: el abordaje de pacientes con macroglosia es complejo, debido a las diversas posibilidades diagnósticas, que incluyen causas endocrinológicas, neoplásicas e, incluso, por deposición de sustancias. Cuando se presenta como un signo aislado en un paciente, se convierte en un reto en su abordaje, ya que la principal complicación a evitar en estos pacientes es el compromiso de la vía aérea.
Assuntos
Amiloidose , Transtornos de Deglutição , Macroglossia , Masculino , Humanos , Pessoa de Meia-Idade , Macroglossia/etiologia , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/etiologia , Amiloidose/complicações , Amiloidose/diagnóstico , Vermelho CongoRESUMO
Amyloidosis is a heterogeneous series of diseases associated with extracellular amyloid protein depositions, which can involve multiple organs and tissues, leading to tissue structure alterations and organ dysfunction. The tongue is the most frequently involved site of oral amyloidosis, and one of its characteristic clinical presentations is macroglossia. Here, we report 3 extremely rare cases of amyloidosis exclusively appearing as multiple blood blisters, petechiae, and ecchymoses of the oral mucosa, in the absence of common clinical manifestations of oral and systemic amyloidosis. In a word, we highlight the possibility of oral mucosal hemorrhagic lesions as the initial clinical signs of systemic amyloidosis and the significance of the early and timely diagnosis of amyloidosis.
Assuntos
Amiloidose , Macroglossia , Humanos , Amiloidose/diagnóstico , Mucosa Bucal , LínguaRESUMO
BACKGROUND: Amyloidosis is a disease characterized by the progressive deposition of abnormal proteins that can occur in any organ. In the oral cavity, the tongue is the most common affected site, usually causing macroglossia. Biopsy is essential for the diagnosis and the occurrence of its systemic form is mandatory to be investigated. This systematic review evaluated the existing information in the literature on Amyloidosis in the oral cavity to allow a more comprehensive and updated analysis of its clinicopathological characteristics, as well as to explore the main forms of treatment and prognostic factors. MATERIAL AND METHODS: Electronic searches were undertaken in five databases supplemented by manual scrutiny. RESULTS: A total of 111 studies were included with 158 individuals. CONCLUSIONS: The disease had a higher prevalence in women, the tongue was the most affected site, as well as the systemic form of the disease. The worst prognosis was for cases of systemic amyloidosis associated with multiple myeloma.
Assuntos
Amiloidose , Macroglossia , Mieloma Múltiplo , Doenças da Língua , Humanos , Feminino , Amiloidose/diagnóstico , Amiloidose/complicações , Amiloidose/patologia , Macroglossia/complicações , Macroglossia/diagnóstico , Doenças da Língua/patologia , Língua/patologiaRESUMO
OBJECTIVES: The role of tongue reduction surgery (TRS) in preventing excessive mandibular growth and anterior open bite in children with Beckwith-Wiedemann Spectrum (BWSp) is still controversial. This cross-sectional study aimed at comparing craniofacial growth pattern in children affected by BWSp either treated or not treated with early TRS for severe macroglossia. Considering the invasive nature of such surgery, the present study could help in clarifying the need for TRS to reduce or prevent growth disturbances. MATERIALS AND METHODS: Orthopantomography and lateral skull x-ray images were taken either from surgically treated or non-surgically treated patients, aged 5 to 8 years, to compare dentoskeletal features and craniofacial growth by cephalometric analysis. Molecular testing results were collected from their medical records. RESULTS: Eighteen BWSp patients were consecutively recruited: 8 underwent TRS at 14.9 ± 2.2 months of age, while 10 did not. Anterior open bite and dental class III were more frequently observed in the surgically treated group, but none showed skeletal class III. No statistically significant differences were observed in growth pattern, but children treated with TRS showed a tendency towards both maxillary and mandibular prognathism with protruding lower lip. Growth pattern seemed to be not related to molecular subtypes. CONCLUSIONS: These preliminary data suggest that early TSR does not improve craniofacial growth pattern and dentoskeletal features in BWSp children. CLINICAL RELEVANCE: Reductive glossectomy may not be justified for preventing or avoiding oro-facial deformities in BWSp; therefore, early monitoring of maxillofacial development of each affected child has a great clinical significance.
Assuntos
Síndrome de Beckwith-Wiedemann , Macroglossia , Mordida Aberta , Criança , Humanos , Síndrome de Beckwith-Wiedemann/cirurgia , Mordida Aberta/cirurgia , Estudos Transversais , Língua/cirurgia , Macroglossia/cirurgiaRESUMO
Beckwith-Wiedemann syndrome (BWS) is an overgrowth and epigenetic disorder caused by changes on chromosome 11p15. The primary features requiring management in childhood include macroglossia, omphalocele, lateralized overgrowth, hyperinsulinism, and embryonal tumors. Management guidelines have not been developed for adults with BWS and there have been few studies to assess the clinical needs of these patients. Furthermore, there have been few studies on the psychosocial implications of BWS in children or adults. Here, we present a descriptive summary of data gathered from two separate adult BWS cohorts. The first, a patient-based survey cohort, includes self-reported health information and recollections about BWS experiences, while the second provides results of a medical record-based assessment from patients in an overgrowth registry. Results highlight the clinical features and medical issues affecting two large independent cohorts of adults with BWS while noting similarities. Open-ended questions asked of the survey cohort yielded themes to guide future qualitative studies. Finally, the study demonstrated the reliability of patient-reported data and the utility of international partnerships in this context.
Assuntos
Síndrome de Beckwith-Wiedemann , Macroglossia , Criança , Humanos , Adulto , Síndrome de Beckwith-Wiedemann/genética , Reprodutibilidade dos Testes , Macroglossia/genética , Metilação de DNARESUMO
OBJECTIVES: Sporadic inclusion body myositis (IBM) is the most common acquired myopathy in those aged above 50. It is classically heralded by weakness in the long finger flexors and quadriceps. The aim of this article is to describe five atypical cases of IBM, outlining two potential emerging clinical subsets of the disease. METHODS: We reviewed relevant clinical documentation and pertinent investigations for five patients with IBM. RESULTS: The first phenotype we describe is young-onset IBM in two patients who had symptoms since their early thirties. The literature supports that IBM can rarely present in this age range or younger. We describe a second phenotype in three middle-aged women who developed early bilateral facial weakness at presentation in tandem with dysphagia and bulbar impairment followed by respiratory failure requiring non-invasive ventilation (NIV). Within this group, two patients were noted to have macroglossia, another possible rare feature of IBM. CONCLUSIONS: Despite the classical phenotype described within the literature IBM can present in a heterogenous fashion. It is important to recognise IBM in younger patients and investigate for specific associations. The described pattern of facial diplegia, severe dysphagia, bulbar dysfunction and respiratory failure in female IBM patients requires further characterisation. Patients with this clinical pattern may require more complex and supportive management. Macroglossia is a potentially under recognised feature of IBM. The presence of macroglossia in IBM warrants further study, as its presence may lead to unnecessary investigations and delay diagnosis.
Assuntos
Transtornos de Deglutição , Macroglossia , Miosite de Corpos de Inclusão , Feminino , Humanos , Miosite de Corpos de Inclusão/diagnóstico , Miosite de Corpos de Inclusão/genética , Miosite de Corpos de Inclusão/terapia , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/etiologia , FenótipoRESUMO
BACKGROUND/OBJECTIVE: Oral malformations of the tongue are exceedingly rare. The aim of this study was to evaluate the effectiveness of individualized treatment for patients with vascular malformations of the tongue. METHODS: This retrospective study is based on a consecutive local registry at a tertiary care Interdisciplinary Center for Vascular Anomalies. Patients with vascular malformations of the tongue were included. Indications for therapy of the vascular malformation were macroglossia with the impossibility to close the mouth, bleeding, recurrent infection and dysphagia. Size regression of the malformation (volume measurement) and symptom improvement were investigated. RESULTS: Out of 971 consecutive patients with vascular malformations, 16 patients suffered from a vascular malformation of the tongue. Twelve patients had slow-flow malformations and 4 fast-flow malformations. Indications for interventions were bleeding (4/16, 25%), macroglossia (6/16, 37.5%), and recurrent infections (4/16, 25%). For two patients (2/16, 12.5%), there was no indication for intervention due to absence of symptoms. Four patients received sclerotherapy, 7 patients Bleomycin-electrosclerotherapy (BEST) and 3 patients embolization. Median follow-up was 16 months (IQR 7-35.5). In all patients, symptoms had decreased after two interventions at a median (IQR 1-3.75). Volume reduction of the malformation of the tongue was 13.3% (from median 27.9âcm3 to median 24.2âcm3, pâ=â0.0039), and even more pronounced when considering only patients with BEST (from 86âcm3 to 59.1âcm3, pâ=â0.001). CONCLUSION: Symptoms of vascular malformations of the tongue are improved after a median of two interventions with significantly increased volume reduction after Bleomycin-electrosclerotherapy.
Assuntos
Macroglossia , Malformações Vasculares , Humanos , Macroglossia/induzido quimicamente , Estudos Retrospectivos , Resultado do Tratamento , Língua , Malformações Vasculares/terapia , Bleomicina/uso terapêutico , Bleomicina/efeitos adversosRESUMO
While macroglossia is a newly accepted component of brachycephalic obstructive airway syndrome (BOAS) in dogs, macroglossia with increased tongue fat is a well-known cause for obstructive sleep apnea (OSA) in people, and targeted reduction procedures such as midline glossectomy are used to treat people with OSA. While midline glossectomy has been described in dogs, tissue contributions to macroglossia have not been characterized. The purpose of this retrospective, descriptive, case-control study was to describe and compare volumetric dimensions of the tongue and tongue fat in brachycephalic (BC) and mesaticephalic (MC) dogs using CT images. Data collected included head and neck CT images from 17 BC and 18 control MC dogs. Multiplanar reformatted and 3D reconstructed images were created using image segmentation and specialized visualization software to calculate volumetric dimensions of the total tongue, tongue fat, and tongue muscle. Rostral and caudal topographical distributions of fat were compared. Total tongue and tongue muscle volume (P < 0.0001) and tongue fat volume (P = 0.01) normalized to body weight (BW) were greater in BC dogs. More fat was localized in the caudal tongue in both groups (P < 0.04). In regression analysis, BC conformation and increased weight were significant predictors of increased tongue fat volume. As in people, increased tongue fat may contribute to macroglossia and sleep-disordered breathing in BC dogs. Use of CT volumetry to identify tongue fat deposits may permit targeted surgical reduction of tongue volume in BC dogs and contribute substantially to treatment of BOAS.
Assuntos
Obstrução das Vias Respiratórias , Craniossinostoses , Doenças do Cão , Macroglossia , Apneia Obstrutiva do Sono , Cães , Animais , Macroglossia/diagnóstico por imagem , Macroglossia/etiologia , Macroglossia/cirurgia , Macroglossia/veterinária , Estudos Retrospectivos , Estudos de Casos e Controles , Língua/diagnóstico por imagem , Apneia Obstrutiva do Sono/etiologia , Apneia Obstrutiva do Sono/veterinária , Obstrução das Vias Respiratórias/diagnóstico por imagem , Obstrução das Vias Respiratórias/cirurgia , Obstrução das Vias Respiratórias/veterinária , Craniossinostoses/veterinária , Tomografia Computadorizada por Raios X/veterináriaRESUMO
Beckwith-Wiedemann syndrome (BWS) is a genetic disease with phenotypic variability and the following signs: macroglossia, asymmetry, lateralised overgrowth, overgrowth of the internal organs, abdominal wall defects, neonatal hypoglycemia and increased risk of embryonic tumours. The prevalence is reported as being between 1 in 10,000 and 1 in 21,000 live births. The disease is caused by molecular changes in gene clusters on the short arm of chromosome 11 region P15.5. We present the case of a female, born preterm at 32 0/7 weeks. A UPD(11)pat-mutation was diagnosed postnatally. The particular feature of her case was an early tongue reduction surgery which was necessary because of drinking and breathing difficulties. Long-lasting hypoglycemia was difficult to treat.
Assuntos
Síndrome de Beckwith-Wiedemann , Hipoglicemia , Macroglossia , Recém-Nascido , Humanos , Feminino , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/diagnóstico , Síndrome de Beckwith-Wiedemann/epidemiologia , Macroglossia/diagnóstico , Macroglossia/etiologia , Macroglossia/cirurgia , Hipoglicemia/diagnóstico , Hipoglicemia/complicaçõesRESUMO
BACKGROUND: Macroglossia is one of the clinical signs that emerges in patients with amyotrophic lateral sclerosis (ALS) who are undergoing invasive ventilation. OBJECTIVE: We aimed to investigate the relationship between the progression of macroglossia and the clinical characteristics during the advanced stages of ALS. METHODS: Forty-one patients with ALS using invasive ventilation with tracheostomy were prospectively followed over a 3-year period. We evaluated the prevalence of macroglossia, motor disabilities including oral function, communication ability (communication stage I to V) as a marker of disease progression, and nutritional factors. We analyzed the potential factors affecting the progression of macroglossia using a multivariate logistic analysis. RESULTS: The number of patients with macroglossia was increased during the follow-up (from 24.4 to 53.7%), while the communication stage progressed from 2.6 in average (SD 1.7) to 3.5 (1.4). During the study, body weight increased, while energy intake decreased, suggesting progressive hypometabolism. Eight patients had newly developed macroglossia during the study and showed greater progression of communication impairment than those without macroglossia. Multivariate logistic regression analysis showed that communication impairment was a factor associated with macroglossia. CONCLUSION: Macroglossia in advanced ALS with invasive ventilation is associated with disease progression.
Assuntos
Esclerose Lateral Amiotrófica , Macroglossia , Humanos , Esclerose Lateral Amiotrófica/complicações , Esclerose Lateral Amiotrófica/epidemiologia , Esclerose Lateral Amiotrófica/terapia , Macroglossia/epidemiologia , Macroglossia/complicações , Relevância Clínica , Progressão da DoençaRESUMO
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with characteristic features, such as overgrowth, macroglossia, and exomphalos. Hypomethylation of the KCNQ1OT1:TSS-differentially methylated region (DMR) on the 11p15.5 imprinted region is the most common etiology of BWS. KCNQ1 on 11p15.5 is expressed from the maternally inherited allele in most tissues, but is biparentally expressed in the heart, and maternal KCNQ1 transcription is required to establish the maternal DNA imprint in the KCNQ1OT1:TSS-DMR. Loss of function variants in KCNQ1 result in long QT syndrome type 1 (LQT1). To date, eight patients with BWS due to KCNQ1 splice variants or structural abnormalities involving KCNQ1 but not the KCNQ1OT1:TSS-DMR have been reported (KCNQ1-BWS), and four of them had LQT1. We report a Japanese boy with BWS and LQT1 presenting with extreme hypomethylation of the KCNQ1OT1:TSS-DMR caused by a de novo 215-kb deletion including KCNQ1 but not the KCNQ1OT1:TSS-DMR on the maternal allele. He was born by emergency cesarean section due to suspicion of placental abruption at 30 weeks of gestation. His birth weight and length were +1.6 SD and +1.0 SD, respectively. His placental weight was +3.9 SD, and histological examination of his placenta was consistent with mesenchymal dysplasia. He had BWS clinical features, including macroglossia, ear creases and pits, body asymmetry, and rectus abdominis muscle dehiscence, and BWS was therefore diagnosed. LQT1 was first noticed at three months in a preoperative examination for lingual frenectomy. The summarized data of our patient and the previously reported eight patients in KCNQ1-BWS showed more frequent and earlier preterm births and smaller sized birth weight in KCNQ1-BWS cases than those with BWS caused by epimutation of the KCNQ1OT1:TSS-DMR. In addition, in five of nine patients with KCNQ1-BWS, LQT1 was detected, and two of them were identified at school age. In our patient and in another single case with LQT1, the LQT1 was not detected early despite neonatal ECG monitoring. For BWS patients with extreme hypomethylation of the KCNQ1OT1:TSS-DMR, searching for CNVs involving KCNQ1 and mutation screening for KCNQ1 should be considered together with periodic ECG monitoring. (338/500 words).