RESUMO
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
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: The objective of this literature review was to list the different etiologies of macroglossia reported in the literature, to identify characteristics that might guide diagnosis, and to create a diagnostic algorithm. METHODS: The bibliographic search was carried out between October 2019 and July 2020 in the PubMed research base using the keywords "macroglossia" (MESH) and/or "tongue enlargement". RESULTS: Of the 1711 references identified, 615 articles were excluded, and 1096 abstracts were reviewed. We classified the different etiologies identified according to their mechanism and whether they were congenital or acquired. The etiologies are divided into the following categories: genetic malformation syndromes, non-syndromic congenital malformations, endocrinopathies, neuromuscular diseases, storage disorders, infectious, inflammatory, traumatic, and iatrogenic diseases. CONCLUSION: Based on this review, we propose a diagnostic algorithm for macroglossia according to the characteristics described. The most common diagnoses among acquired causes were amyloidosis (13.7%), endocrinopathies (8.8%), myopathies (4%) and tongue tumors (6.7%). The most common congenital causes were aneuploidy, lymphatic malformations, and Beckwith-Wiedemann syndrome, which is the main cause of congenital macroglossia, even if it appears isolated.
Assuntos
Macroglossia , Humanos , Algoritmos , Síndrome de Beckwith-Wiedemann/complicações , Macroglossia/diagnósticoRESUMO
BACKGROUND: Amyloidosis is characterised by the deposition of fibrillar insoluble proteinaceous material called amyloid in the extracellular spaces. It may present as localized form which is rare and systemic form. Systemic amyloidosis involves many organs like kidney, heart and liver. Manifestations of both types may vary based on the age of onset, degree and extension of the deposition. Understandably, the diagnosis is challenging but the early identification of the condition and the type of amyloidosis can increase the efficiency of treatment. Positive Congo red staining is the gold standard for demonstration of amyloid in tissue sections. Here we are presenting a case of a 77-year-old female patient who presented with the complaint of difficulty in swallowing for 2 years due to bilateral symmetrical enlargement of the tongue which was subsequently diagnosed as systemic amyloidosis.
Assuntos
Amiloidose , Amiloidose de Cadeia Leve de Imunoglobulina , Macroglossia , Idoso , Amiloidose/complicações , Amiloidose/diagnóstico , Feminino , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Macroglossia/congênito , Macroglossia/diagnóstico , Macroglossia/etiologia , LínguaAssuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Complexo Mediador/genética , Mutação de Sentido Incorreto , Fenótipo , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Nanismo/diagnóstico , Nanismo/genética , Humanos , Macroglossia/diagnóstico , Macroglossia/genética , Megalencefalia/diagnóstico , Megalencefalia/genéticaRESUMO
Venolymphatic malformations (VLM) are the rare congenital disorders but the parotid gland VLMs are the rarest. Most of the parotid lesions present with unilateral swellings. Aetiology is unknown. Interestingly, this case came in OPD with the macroglossia and only complaint was cosmetic problem. Diagnosis was confirmed on the basis of Magnetic resonance imaging which is gold standard. Doppler ultrasonography showed low flow. Intra lesion electro cautery was done. There is need to focus on malformations and work to find out the causes.
Assuntos
Macroglossia/congênito , Glândula Parótida , Criança , Eletrocoagulação , Humanos , Macroglossia/diagnóstico , Macroglossia/patologia , Macroglossia/cirurgia , Imageamento por Ressonância Magnética , Masculino , Glândula Parótida/anormalidades , Glândula Parótida/irrigação sanguínea , Glândula Parótida/cirurgia , Língua/diagnóstico por imagem , Língua/patologia , Língua/cirurgia , UltrassonografiaAssuntos
Fissura Palatina/cirurgia , Equimose/etiologia , Perfuração Intestinal/etiologia , Laparoscopia/métodos , Procedimentos de Cirurgia Plástica/métodos , Inconsciência/etiologia , Antibioticoprofilaxia , Diagnóstico Diferencial , Duodeno/fisiopatologia , Duodeno/cirurgia , Equimose/diagnóstico , Feminino , Humanos , Lactente , Unidades de Terapia Intensiva , Perfuração Intestinal/diagnóstico , Perfuração Intestinal/cirurgia , Macroglossia/diagnóstico , Macroglossia/etiologia , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/terapia , Procedimentos de Cirurgia Plástica/efeitos adversos , Resultado do Tratamento , Umbigo/fisiopatologia , Inconsciência/fisiopatologiaRESUMO
BACKGROUND: Amyloidosis is a rare and variable disease, characterized by extracellular deposits of amyloid protein in different tissues and organs. Patients may present with a range of symptoms, depending on the extent of involvement. Rapid, accurate diagnosis is still challenging in clinical practice. CASE REPORT: A 72-y-old woman presented with a 1-y history of droopy upper left eyelid, resulting in decreased visual acuity, and progressive tongue swelling, resulting in dysarthria, dysphagia, and sleep apnea. Physical examination revealed puffy eyes, moderate swelling up to 1â¯cm of the upper left eyelid, swollen submental region, and protrusion of the tongue, causing an inability to close the mouth. An abnormal serum free light chain ratio implied the presence of monoclonal gammopathies, and Congo red staining revealed amyloid deposits in specimens from both the tongue and left eyelid. Therefore, a diagnosis of systemic light-chain (AL) amyloidosis was confirmed. The patient then received oral melphalan therapy and surgical intervention for macroglossia. Clinical symptoms including dysarthria, dysphagia, and sleep apnea were under control at 6-month follow-up. CONCLUSIONS: We report an uncommon case presenting initially with both ptosis and macroglossia, for which a final diagnosis of systemic AL amyloidosis was made. Detailed history and laboratory investigation must be implemented on suspicion of amyloidosis, because early recognition of amyloid-associated diseases and appropriate treatment can improve clinical outcomes.
Assuntos
Blefaroptose/diagnóstico , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Macroglossia/congênito , Idoso , Antineoplásicos Alquilantes/uso terapêutico , Blefaroptose/terapia , Feminino , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/terapia , Macroglossia/diagnóstico , Macroglossia/terapia , Melfalan/uso terapêuticoRESUMO
El síndrome de Beckwith-Wiedemann es una enfermedad congénita, poco frecuente, caracterizada por presentar macroglosia, defectos de la pared abdominal, hemihipertrofia, onfalocele, hipoglucemia neonatal, hernia umbilical, hepatomegalia, anomalías cardíacas, entre otros. La macroglosia se presenta en el 90% de los casos y genera problemas en la masticación, deglución, fonación y respiración, que ocasionan un cierre de la vía aérea superior. La opción terapéutica de elección es la glosectomía parcial. Se presenta a un paciente pediátrico de dos meses de nacido, con síndrome de Beckwith-Wiedemann y obstrucción de la vía aérea por macroglosia grave. En los antecedentes médicos, se reportaron cardiopatías congénitas, comunicación interauricular, conducto arterioso persistente, epilepsia sintomática, falla renal, hipoglicemia, traqueotomía y gastrostomía por el colapso de la vía aérea y disfagia. Se realizó la técnica quirúrgica de glosectomía de reducción anterior, con resultados favorables.
Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia. It was performed an anterior tongue reduction surgery as a surgical treatment with favorable results.
Assuntos
Humanos , Masculino , Lactente , Síndrome de Beckwith-Wiedemann/cirurgia , Glossectomia/métodos , Macroglossia/congênito , Síndrome de Beckwith-Wiedemann/diagnóstico , Macroglossia/cirurgia , Macroglossia/diagnósticoRESUMO
Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia. It was performed an anterior tongue reduction surgery as a surgical treatment with favorable results.
El síndrome de Beckwith-Wiedemann es una enfermedad congénita, poco frecuente, caracterizada por presentar macroglosia, defectos de la pared abdominal, hemihipertrofia, onfalocele, hipoglucemia neonatal, hernia umbilical, hepatomegalia, anomalías cardíacas, entre otros. La macroglosia se presenta en el 90% de los casos y genera problemas en la masticación, deglución, fonación y respiración, que ocasionan un cierre de la vía aérea superior. La opción terapéutica de elección es la glosectomía parcial. Se presenta a un paciente pediátrico de dos meses de nacido, con síndrome de Beckwith-Wiedemann y obstrucción de la vía aérea por macroglosia grave. En los antecedentes médicos, se reportaron cardiopatías congénitas, comunicación interauricular, conducto arterioso persistente, epilepsia sintomática, falla renal, hipoglicemia, traqueotomía y gastrostomía por el colapso de la vía aérea y disfagia. Se realizó la técnica quirúrgica de glosectomía de reducción anterior, con resultados favorables.
Assuntos
Síndrome de Beckwith-Wiedemann/cirurgia , Glossectomia/métodos , Macroglossia/congênito , Síndrome de Beckwith-Wiedemann/diagnóstico , Humanos , Lactente , Macroglossia/diagnóstico , Macroglossia/cirurgia , MasculinoRESUMO
A 53-year-old woman presented with painful macroglossia and periorbital papules. Based on this clinical features and biopsies the diagnosis of nodular amyloidosis was established. Further analysis revealed that multiple myeloma was the underlying hematological disorder.
Assuntos
Amiloidose , Macroglossia , Mieloma Múltiplo , Língua/patologia , Amiloidose/etiologia , Amiloidose/patologia , Biópsia/métodos , Diagnóstico Diferencial , Feminino , Humanos , Macroglossia/diagnóstico , Macroglossia/patologia , Macroglossia/fisiopatologia , Pessoa de Meia-Idade , Mieloma Múltiplo/complicações , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/patologiaRESUMO
A 70-year-old African American man suffered anoxic encephalopathy following a choking episode. He had a history of hypertension, which was being treated with lisinopril, an angiotensin-converting enzyme inhibitor (ACEI). Soon after the patient's admission to an intensive care unit, his tongue began to swell until it reached more than twice its normal size and extended almost 2 inches outside his mouth. When the swelling did not diminish after 2 weeks, a diagnosis of ACEI-induced angioedema was determined. ACEIs have the potential to cause angioedema through an uncommon effect on the angiotensin-renin vascular control system. Lingual angioedema can be life-threatening due to the possibility of severe compromise of the airway and thus may require immediate intubation. After the ACEI is discontinued, swelling may remain if there is continued pressure from the maxillary and mandibular incisors on the dorsal and lingual surfaces of the tongue. In this case, the patient was comatose and unable to voluntarily move the tongue; therefore, relief from pressure was easily accomplished, and the edema was eventually diminished through a team effort in which a dentist instructed the nursing personnel on proper placement of Molt mouth props.
Assuntos
Angioedema/terapia , Macroglossia/terapia , Idoso , Angioedema/induzido quimicamente , Angioedema/diagnóstico , Inibidores da Enzima Conversora de Angiotensina/efeitos adversos , Diagnóstico Diferencial , Humanos , Lisinopril/efeitos adversos , Macroglossia/induzido quimicamente , Macroglossia/diagnóstico , Masculino , Equipe de Assistência ao PacienteRESUMO
No disponible
Assuntos
Humanos , Masculino , Adulto , Macroglossia/diagnóstico , Macroglossia/fisiopatologia , Macroglossia/cirurgia , Glossectomia/instrumentação , Glossectomia/métodos , Hipertrofia/complicações , Hipertrofia/fisiopatologia , Língua/anormalidades , Língua/fisiopatologia , Doenças da Língua/complicaçõesRESUMO
Intermittent tongue angioedema can be the initial presentation of several disorders including angiotensin-converting-enzyme inhibitor induced angioedema and hereditary angioedema. Persistent angioedema on the other hand, can be associated with amyloidosis, tumors, thyroid disorders and acromegaly. We present a case of intermittent episodes of tongue swelling progressing to macroglossia.
Assuntos
Angioedema/diagnóstico , Angioedema/etiologia , Doenças da Língua/diagnóstico , Doenças da Língua/etiologia , Biomarcadores , Diagnóstico Diferencial , Progressão da Doença , Humanos , Macroglossia/diagnóstico , Macroglossia/etiologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Neoplasias Hipofisárias/diagnósticoRESUMO
No disponible
Assuntos
Humanos , Masculino , Idoso , Macroglossia/complicações , Macroglossia/diagnóstico , Lipomatose Simétrica Múltipla/complicações , Lipomatose Simétrica Múltipla/diagnóstico , Lipomatose Simétrica Múltipla/patologia , Pescoço/patologia , Pescoço , Língua/patologia , Língua/cirurgiaRESUMO
No disponible
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/diagnóstico , Hipertensão/complicações , Hipertensão/diagnóstico , Macroglossia/complicações , Macroglossia/diagnóstico , Amiloidose/diagnóstico , Amiloidose/fisiopatologia , Nefrectomia/métodos , Biópsia/instrumentação , Biópsia/métodos , Eletroforese das Proteínas Sanguíneas/métodos , Eletroforese/instrumentação , Eletroforese/métodosRESUMO
We report on a female fetus with macrocephaly and macroglossia harbouring 13q31.1 microdeletion encompassing three genes: SPRY2, NDFIP2 and RBM26. NDFIP2 protein is involved in ubiquitination and in Ras/mitogen-activated protein kinase (MAPK) signaling pathways. SPRY2 protein is part of Sprout protein family and inhibits the Ras/MAPK pathways. Ras/MAPK pathway plays important role in complex cellular programs including cell differentiation and proliferation. Germline mutations in genes encoding protein involved in the MAPK cascade is responsible for a wide family of developmental disorders known as RASopathies. Some RASopathies, such as Costello syndrome, present a phenotype with (relative) macrocephaly as perinatal features. However, prenatal-onset macroglossia are generally absent in this syndrome but rather suggestive of the Beckwith-Wiedemann syndrome for which molecular testing were negative. Phenotype-genotype correlation with patients from DECIPHER defines NDFIP2 and SPRY2 as a possible candidate genes for a RASopathy potentially responsible for the clinical features in the fetus. Finally, this original case of 13q31.1 microdeletion underlines the importance of array-CGH in prenatal diagnosis with sonographic signs such as macroglossia and/or macrocephaly. In this case, genetic investigation should be not limited to the search of well-known genetic causes and other genomic microdeletions should be considered as alternative diagnoses for macroglossia.