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Annales de Dermatologie Et de... Dec 2022The objective of this literature review was to list the different etiologies of macroglossia reported in the literature, to identify characteristics that might guide... (Review)
Review
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.
Topics: Humans; Algorithms; Beckwith-Wiedemann Syndrome; Macroglossia
PubMed: 36229262
DOI: 10.1016/j.annder.2022.03.011 -
Advances in Clinical and Experimental... Nov 2019Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and...
Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and characteristics found in trisomy 21, which greatly affect the functioning of the stomatognathic system. The most significant disorders include the following: false macroglossia, muscular hypotonia and gothic palate. These abnormalities affect articulation, breathing, food intake, and swallowing. We analyzed the morphological characteristics of the craniofacial region in children with DS based on the current literature review. The following databases were used for the analysis: MEDLINE (via PubMed), Scopus, Infona, and Dentistry & Oral Sciences Source. In the course of the study, 199 pieces of literature were analyzed; the analysis also included 18 articles on children and adults with DS. It also took into account the structure of the palate, dental and skeletal defects, size of the tongue, muscular hypotonia, and temporomandibular joint dysfunction. Down syndrome is still a current subject of research. Although macroglossia, hypotonia, malocclusion, and temporomandibular joint abnormalities are not features exclusive to DS, numerous dysfunctions and parafunctions as well as retarded psychomotor development greatly complicate the treatment. Therefore, interdisciplinary treatment of patients with trisomy 21 and early treatment in the first months of life with the use of the Castillo-Morales plate are very important, as they ensure better adaptation to the subsequently used apparatus and reduce the risk of disorders of the stomatognathic system.
Topics: Down Syndrome; Facial Muscles; Humans; Infant; Infant, Newborn; Macroglossia; Muscle Hypotonia; Tongue; Trisomy
PubMed: 31778604
DOI: 10.17219/acem/112785 -
JIMD Reports Nov 2022Mucopolysaccharidoses (MPSs) and mucolipidosis II and III (ML II and III) often manifest with orofacial (progressive) abnormalities, which may have a major impact on...
Mucopolysaccharidoses (MPSs) and mucolipidosis II and III (ML II and III) often manifest with orofacial (progressive) abnormalities, which may have a major impact on quality of life. However, because these patients have multiple somatic health issues, orofacial problems are easily overlooked in clinical practice and available literature on this topic solely consists of case reports, small case series, and small cohort studies. The aim of this systematic review was to gain more insight in the nature and extent of orofacial abnormalities in MPS, ML II, and III. A systematic review of all previously published articles addressing orofacial abnormalities in MPS, ML II, and III was performed. Both clinical studies and case reports were included. Outcome was the described orofacial abnormalities, subdivided into abnormalities of the face, maxilla, mandible, soft tissues, teeth, and occlusion. The search resulted in 57 articles, describing orofacial features in 340 patients. Orofacial abnormalities were present in all subtypes of MPS, ML II, and III, and consisted of thickened lips, a hypoplastic midface, a high-arched palate, hypoplastic condyles, coronoid hyperplasia, macroglossia, gingival hyperplasia, thick dental follicles, dentigerous cysts, misshapen teeth, enamel defects, and open bite. Orofacial abnormalities are present in all subtypes of MPS, ML II, and III. As orofacial abnormalities may cause complaints, evaluation of orofacial health should be part of routine clinical care.
PubMed: 36341168
DOI: 10.1002/jmd2.12331 -
Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease.The British Journal of Oral &... Nov 2019Fabry disease and Pompe disease are rare lysosomal storage disorders that belong to a heterogeneous group of more than 200 distinct inborn metabolic diseases. Mutations...
Fabry disease and Pompe disease are rare lysosomal storage disorders that belong to a heterogeneous group of more than 200 distinct inborn metabolic diseases. Mutations followed by loss of function of enzymes or transporters that are localised in the acidic environment of the lysosome may result in degradation of many substrates, such as glycosaminoglycans, glycosphingolipids, glycogen, cholesterol, oligosaccharides, glycoproteins, and peptides, or the excretion of the products degraded by the lysosome. Our aim was to identify the oral signs and symptoms of Fabry disease and Pompe disease from a systematic review made using MEDLINE/PubMed, and a hand search for relevant articles, following the PRISMA guidelines. Both diseases show various craniofacial and oral changes, including supernumerary teeth, dental agenesis, angiokeratoma, and telangiectases in Fabry disease; and macroglossia, teeth fusion, and taurodontism in Pompe disease. Common clinical signs of Fabry disease include hyposalivation, hypohidrosis, and xerophthalmia, and a generally reduced physical resilience was apparent in patients with Pompe disease. Oral and craniofacial changes in patients with both diseases extend over their entire lifetime and can be detected even in an infant. Lysosomal storage diseases should be taken into consideration in the differential diagnosis of relevant diverse symptoms, because treatment, when available, is most effective when started early. The main therapeutic concepts are enzymatic replacement for Pompe disease, whereas patients with Fabry disease require additional oral chaperone treatment or enzyme replacement.
Topics: Disease Progression; Fabry Disease; Glycogen Storage Disease Type II; Humans; Lysosomal Storage Diseases; Mutation
PubMed: 31405600
DOI: 10.1016/j.bjoms.2019.07.018 -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2023Amyloidosis 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...
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.
Topics: Humans; Female; Amyloidosis; Macroglossia; Multiple Myeloma; Tongue Diseases; Tongue
PubMed: 37330968
DOI: 10.4317/medoral.25761 -
Neuro-Chirurgie 2015The sitting position for pineal tumour removal remains controversial as regards the number of potential complications despite good surgical conditions. (Review)
Review
INTRODUCTION
The sitting position for pineal tumour removal remains controversial as regards the number of potential complications despite good surgical conditions.
METHOD
A systematic review of the literature was conducted in order to record the most frequent complications observed in this position, their incidence and prevention.
RESULTS
Venous air embolism, hypotension, pneumocephalus, macroglossia, quadriplegia and nerve injuries are the most frequent complications observed. Their incidence can be dramatically decreased with an accurate anesthesiological and neurosurgical management.
CONCLUSION
In training teams, the sitting position remains the gold standard for pineal tumour removal.
Topics: Anesthetics; Embolism, Air; Humans; Intraoperative Complications; Monitoring, Intraoperative; Neurosurgical Procedures; Pineal Gland
PubMed: 25676910
DOI: 10.1016/j.neuchi.2014.10.110 -
International Journal of Pediatric... Apr 2021Sotos syndrome 1 (SOTOS1; MIM:117550) is rare genetic disorder characterized by excessive physical growth before and after birth, distinctive facial features, a large... (Review)
Review
OBJECTIVES
Sotos syndrome 1 (SOTOS1; MIM:117550) is rare genetic disorder characterized by excessive physical growth before and after birth, distinctive facial features, a large and elongated head, and intellectual disability (Sotos et al., 1964; Tatton-Brown et al., 1993). This systematic review aims to determine otolaryngologic conditions and complications of SOTOS1 based on existing literature through a review of current and past case reports and studies regarding SOTOS1.
METHODS
A systematic review of all published literature (1964-2020) describing otolaryngologic conditions and/or complications of patients with SOTOS1. Twenty journal articles met inclusion criteria. These articles included 160 patients diagnosed with SOTOS1.
RESULTS
Of the 160 individuals with SOTOS1 included in this review, 22 (14%) were reported to have otologic conditions. 4 (3%) individuals were reported to have conditions involving the thyroid and parathyroid glands. 2 (1%) individuals were reported to have head & neck tumors. 39 (24%) individuals were reported to have congenital malformations or abnormalities of the head & neck. 47 (29%) individuals were reported to have feeding difficulties. 16% of individuals were reported to have other otolaryngologic conditions.
CONCLUSIONS
Our review found multiple otolaryngologic conditions present in patients with SOTOS1, including hearing loss, otitis, hyperthyroidism, hypothyroidism, head & neck tumors, congenital malformations (high arched palate, cleft lip and palate, macroglossia), feeding difficulties, respiratory difficulties, and speech disorders. Additional studies should be conducted to further assess these associations.
Topics: Cleft Lip; Cleft Palate; Deafness; Humans; Intellectual Disability; Sotos Syndrome
PubMed: 33640723
DOI: 10.1016/j.ijporl.2021.110649 -
Seizure Jan 2023Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/intellectual disability, somatic dysmorphisms,...
BACKGROUND
Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/intellectual disability, somatic dysmorphisms, behavioural disorder, ataxia/tremors. Although seizures have been formerly reported, their clinical semiology, EEG features and long-term outcome are largely unknown.
PURPOSE
This study aims to expand knowledge on epilepsy associated with Cabezas syndrome and to understand whether different types of variants in the CUL4B gene or brain MRI abnormalities may influence seizure onset and epilepsy course.
METHODS
With this in mind, we characterised the epileptic phenotype of a 17-year-old adolescent harbouring a CUL4B novel variant and performed a systematic literature review of CUL4B-associated seizures, analysing mutation types and neuroimaging features as epilepsy predictors.
RESULTS
Our case observation indicates that CUL4B-associated epilepsy may also be drug-resistant and persist beyond infancy. Literature analysis shows that 43% of CUL4B patients develop seizures, with no statistically significant differences in epilepsy development according to mutation type and neuroimaging features.
CONCLUSION
Our study extends knowledge of CUL4B-associated epilepsy, offering new insights into disease progression.
Topics: Humans; Cullin Proteins; Electroencephalography; Epilepsy; Mental Retardation, X-Linked; Mutation; Seizures
PubMed: 36476360
DOI: 10.1016/j.seizure.2022.11.014 -
International Journal of Environmental... Nov 2021COVID-19 disease first appeared in 2019 and quickly spread worldwide, causing a global pandemic. The oral cavity represents a target of SARS-CoV-2, and oral lesions are...
BACKGROUND
COVID-19 disease first appeared in 2019 and quickly spread worldwide, causing a global pandemic. The oral cavity represents a target of SARS-CoV-2, and oral lesions are observed in both non-hospitalized and hospitalized patients. This systematic review aims to investigate the frequency of oral manifestations in COVID-19 hospitalized patients.
METHODS
An electronic search was conducted in PubMed, Scopus, and Web of Science databases, including articles published up to September 2021. The review protocol was based on PRISMA-P. The risk of bias of the studies was assessed using the Joana Briggs Institute. The certainty of evidence was assessed using the GRADE instrument.
RESULTS
Fifty-nine articles were included: 19 case reports, 17 case series, 2 case-control studies, 13 cross-sectional studies, 4 observational studies, and 4 retrospective studies. Oral ulcers, cheilitis, and tongue lesions were more common in patients before hospitalization, while perioral pressure ulcers, macroglossia, blisters, and oral candidiasis were more recurrent in patients during hospitalization. The first could be related directly to COVID-19, while the latter could be caused by medical devices, treatments, prone position, and immunological impairment.
CONCLUSIONS
An accurate oral examination during the hospital admission of all confirmed COVID-19 cases is encouraged to recognize oral early manifestations and to apply appropriate treatments.
Topics: COVID-19; Cross-Sectional Studies; Humans; Meta-Analysis as Topic; Retrospective Studies; SARS-CoV-2
PubMed: 34886241
DOI: 10.3390/ijerph182312511 -
Bratislavske Lekarske Listy 2024Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that causes developmental defects as well as an elevated risk of malignancies. Macroglossia, or an enlarged...
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that causes developmental defects as well as an elevated risk of malignancies. Macroglossia, or an enlarged tongue, is a common symptom of BWS that may have a negative influence on a person's quality of life. The aim of this systematic review is to look at the present state of knowledge about the repercussions of macroglossia, as well as the influence of the timing of surgical resection, or glossectomy, in the treatment of severe cases of macroglossia (Ref. 35). Keywords: macroglossia, Beckwith-Wiedemann syndrome, glossectomy.
Topics: Humans; Macroglossia; Beckwith-Wiedemann Syndrome; Quality of Life; Glossectomy
PubMed: 38041843
DOI: 10.4149/BLL_2024_006