Sturge-Weber syndrome with massive macroglossia and anterior neck space infection- a case report and review of literature.

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.

Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction.

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.

[Giant tongue leading to dysphagia in light chain amyloidosis patient]. / Lengua gigante condicionante de disfagia en paciente con amiloidosis de cadenas ligeras.

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.

Amyloidosis initially only manifesting as oral mucosal hemorrhagic lesions: a case series report.

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.

Oral amyloidosis: an update.

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.

Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?

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.

Adult experiences in Beckwith-Wiedemann syndrome.

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.

[Preterm with Macroglossia and Persistent Hypoglycemia - Beckwith-Wiedemann Syndrome]. / Frühgeborenes mit Makroglossie und persistierender Hypoglykämie ­ Beckwith-Wiedemann-Syndrom.

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.

Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.

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).

Macroglossia in rapidly progressive inclusion body myositis.

Inclusion body myositis (IBM) is a refractory muscle disease characterized by inflammatory and degenerative features in myofibers. Macroglossia is common in systemic amyloid light chain amyloidosis; however, no reports have been published on patients with IBM. We encountered a female patient with clinicopathologically defined IBM who exhibited relatively rapid progression of dysphagia, gait disturbance, and macroglossia. Muscle biopsy demonstrated endomysial mononuclear inflammatory infiltrates, fiber necrosis and regeneration with rimmed vacuoles, and sarcoplasmic inclusions of p62. Tongue biopsy demonstrated fiber degeneration with fatty replacement and fibrosis, nonnecrotic fibers surrounded and invaded by mononuclear cells, and sarcoplasmic dotlike inclusions of p62. Based on the parotid gland, lip, and muscle biopsy, she was diagnosed as having IBM with Sjögren's syndrome. She was treated with steroid pulse and intravenous immunoglobulin therapy followed by oral administration of prednisolone, which resulted in temporary clinical improvement. Macroglossia might be an indicator of immunotherapy effectiveness.

Management of MACROGLOSSIA: Case Series and Suggested Algorithm.

PURPOSE: Idiopathic macroglossia is a rare entity of true tongue enlargement without an underlying etiology. There are only a few case reports on the diagnosis and management of idiopathic macroglossia. This study's purpose was to present a series of patients with idiopathic macroglossia and suggest a treatment algorithm. METHODS: This was a retrospective case series of a cohort of patients with macroglossia who were treated by the Oral and Maxillofacial Surgery service at the University of Texas Health Science Center at Houston (UTHealth)and Emory University. The patient's medical comorbidities, history of present illness, clinical presentation, radiographic findings, and disease management were studied. The outcome variables include normalization of the tongue size, dependence on parenteral nutrition, and tolerating tracheostomy decannulation. RESULTS: Five patients with a mean age of 45 years were included in the study. All of the patients (n = 5, 100%) in our cohort developed macroglossia following prolonged oral intubation, with 3.5 weeks being the average length of intubation. All patients presented with difficulty feeding orally and breathing. The average tongue dimension was 12.20 x 6.25 cm. All tongue enlargements were located in the anterior 2/3 of the tongue, and all patients had displaced anterior dentition. In addition, 60% of the patients (n = 3) experienced altered tongue sensation (pain and/or decreased taste). These patients were surgically managed with tracheostomy and percutaneous endoscopic gastrostomy (PEG) tube placement followed by partial glossectomy (n = 5, 100%). We defined successful outcomes as 1) modifying the tongue to a functional, nonprotruding form, 2) tracheostomy decannulation and 3) PEG tube removal. Tracheostomy decannulation and PEG tube removal were achieved in 80% of the patients (n = 4). CONCLUSIONS: In this patient cohort, we were unable to identify the cause of the pathology based on existing clinical data. When the etiology is unclear or irreversible, management should involve tracheostomy and surgical feeding access for the initial stabilization, followed by modified glossectomy to improve form, function, and cosmesis thereby improving the overall quality of life.

Partial Glossectomy Combined With Radiofrequency Ablation for Macroglossia in Beckwith-Wiedemann Syndrome.

OBJECTIVE: As the most common feature of Beckwith-Wiedemann syndrome (BWS), macroglossia may influence the quality of life, maxillofacial growth, and speech development of children. The retrospective study aimed to investigate the therapeutic effect of partial glossectomy combined with radiofrequency ablation (RFA) for macroglossia patients in BWS. METHODS: A retrospective study was conducted in BWS-derived macroglossia patients who underwent partial glossectomy combined with RFA from May 2019 to January 2021. In total, 35 patients consisting of 17 males and 18 females met the inclusion criteria and underwent surgery by the same plastic surgeon. Demographic characteristics, BWS features, operation details, preoperative and postoperative outcomes, satisfaction evaluations, and subgroup analysis were collected and assessed. RESULTS: Of the 35 patients involved, the average age at the time of surgery was 14.05±8.08 months, and the average surgery duration was 48.17±6.72 minutes. Only 1 patient suffered ventral tongue wound dehiscence, and the rest of the patients did not develop any other complications. The severity and frequency of tongue protrusion, drooling, snoring, and feeding difficulty were significantly ameliorated. The patient's parents showed satisfaction towards the overall surgery, tongue's appearance, and tongue's motor function. Tongue's height decreased from 32.09±1.16 mm before the operation to 29.29±1.33 mm after the operation. CONCLUSION: The partial glossectomy combined RFA exerts a safe, effective and viable technique to treat BWS-derived macroglossia.

Taming the Tongue: The Surgical Approach to Macroglossia.

While traditionally in the realm of otorhinolaryngology or oral maxillofacial surgery, conditions involving the tongue may also be managed by plastic surgeons. The authors present an unusual case of acquired macroglossia resulting from angiotensin-converting enzyme inhibitor-induced angioedema and review the literature to discuss its surgical management from a plastic surgery perspective. A 62-year-old female suffered severe airway obstruction, respiratory arrest, and anoxic brain injury from angioedema-associated macroglossia. After tracheostomy, the patient was managed nonsurgically, with bite wound care and medications to minimize angioedema to marginal effect. Ultimately, a partial glossectomy was planned. The edematous distal tongue was amputated and closed primarily. On postoperative day 2, she was successfully weaned off mechanical ventilation and no longer suffers trauma from tongue biting. The simple anterior tongue resection described in this paper was an appropriate approach for our patient. More research is needed to guide plastic surgeons in an optimal approach for clinical scenarios.

Abordagem interdisciplinar no tratamento da macroglossia na síndrome de Beckwith-Wiedemann: relato de caso / Interdisciplinary approach in the treatment of macroglossia in Beckwith-Wiedemann syndrome: case report

RESUMO O objetivo deste estudo foi relatar a abordagem interdisciplinar no manejo da macroglossia em um caso de paciente com síndrome de Beckwith-Wiedemann, no período de dez anos. O acompanhamento iniciou pela equipe de Cirurgia Bucomaxilofacial, seguido da Fonoaudiologia, em função de dificuldades alimentares. Após avaliação clínica e instrumental, aos 8 meses de idade, iniciou-se a intervenção fonoaudiológica com foco na disfagia orofaríngea e na terapia miofuncional orofacial. Foi verificado, com 1 ano e 11 meses, ausência de sinais de alteração de deglutição em fase faríngea e melhora na postura de lábios e língua. Aos 3 anos, foram iniciados estímulos para retirada dos hábitos orais e o treino da função mastigatória. O tratamento ortodôntico para correção de mordida aberta anterior e mordida cruzada posterior unilateral iniciou-se aos 6 anos. Aos 7 anos e 5 meses de idade, constatou-se estabilidade do modo respiratório nasal e adequação da postura de repouso de lábios e língua. Aos 9 anos, em função de recidiva das alterações oclusais, optou-se pela redução cirúrgica da língua seguida de terapia miofuncional orofacial, retomada aos 9 anos e 3 meses. O resultado foi a correção da postura da língua na deglutição e a adequação da fala. A associação dos tratamentos, envolvendo Fonoaudiologia, Ortodontia e Cirurgia Bucomaxilofacial foi considerada efetiva no manejo da macroglossia, resultando na adequação e equilíbrio das funções orofaciais.

ABSTRACT This study aims to report the interdisciplinary management of macroglossia in a Beckwith-Wiedemann syndrome patient during ten years. Clinical follow-up started by the Oral and Maxillofacial Surgery team, followed by Speech Therapy due to feeding difficulties. After clinical and instrumental evaluation, at 8 months old, the speech therapy intervention was indicated, focusing on oropharyngeal dysphagia and orofacial myofunctional therapy. At 1 year and 11 months, no signs of swallowing alteration in the pharyngeal phase and improvement in the posture of the lips and tongue were found. At the age of 3, stimulation to remove oral habits and train masticatory function were initiated. Orthodontic treatment to correct anterior open bite and unilateral posterior crossbite started at age 6. At 7 years and 5 months, there was stability in the nasal breathing mode and adequacy of resting posture of lips and tongue. At the age of 9, due to relapse of the occlusal alterations, surgical reduction of the tongue was indicated, followed by orofacial myofunctional therapy, restarted at the age of 9 years and 3 months. The result was the correction of the posture of the tongue during swallowing and speech adequacy. The association of treatments involving Speech Therapy, Orthodontics and Oral and Maxillofacial Surgery was considered effective in the management of the macroglossia. It resulted in the adequacy and equilibrium of orofacial functions.

Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.

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.

Macroglossia as the initial presentation of AL amyloidosis: review and updates in treatment.

We encountered a man in his 60s presenting with worsening macroglossia. The patient underwent extensive otolaryngology evaluation and was diagnosed with primary (AL) amyloidosis on tongue biopsy with Congo red stain. The patient then underwent a bone marrow biopsy and was also found to have concurrent multiple myeloma. He started induction therapy with daratumumab and CyBorD (cyclophosphamide, bortezomib, dexamethasone). Cardiac MRI revealed extensive cardiac amyloidosis and the patient was deemed high risk for autologous stem cell transplant (auto-HCT). Unfortunately, the patient underwent hospitalisation for heart failure exacerbation requiring extensive medical management and passed away as a result of this pathology. AL amyloidosis is a rare disease to begin with and macroglossia as the only presenting sign is notable. This case emphasises the importance of considering AL amyloidosis in patients presenting with similar complaints as macroglossia can be attributed to other less serious aetiologies.

A 65-Year-Old Woman with an Enlarged Tongue Due to Amyloidosis.

BACKGROUND Amyloidosis is a clinical condition characterized by the extracellular deposition of insoluble, abnormal amyloid fibrils in various body tissues. It is generally categorized into 2 forms - localized and systemic - with a wide range of signs and symptoms. This case report discusses the localized amyloidosis involvement of the oral cavity and its treatment. CASE REPORT A 65-year-old woman presented to the oral medicine clinic reporting painless tongue enlargement, which has been slowly progressing over several years, leading to difficulty in tongue movement, eating, and swallowing. Extra-oral examination showed a prominent lower lip with rubbery consistency. Intra-oral examination revealed a significantly enlarged tongue almost filling the whole oral cavity with dental indentations evident on all tongue surfaces and multiple, deep ulcerative craters of various sizes ranging from 2 to 5 mm in diameter. Histopathological examination under light microscope using hematoxylin and eosinophil and Congo red stain were diagnostic for amyloidosis. Further investigation with the Rheumatology Department, including renal and liver function tests, as well as echocardiography, were conducted and ruled out systemic involvement of other body organs. The patient was treated with weekly intra-lesional triamcinolone injections, with significant improvement. CONCLUSIONS We report a rare case of localized amyloidosis presenting as macroglossia. Although the most effective management in tongue amyloidosis is surgical resection, conservative management in cases of localized oral amyloidosis presenting as macroglossia with weekly intra-lesional triamcinolone injections can be an effective approach, providing patients with better quality of life. Future studies exploring treatment modalities for similar cases with limited oral involvement are warranted.

A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI - a case report.

Mucopolysaccharidosis VI is a genetic disorder affecting multiple organs with sundry clinical presentations. The main etiological factor reflects the disturbances in mucopolysaccharide metabolism leading to deposition of acid mucopolysaccharide in various tissues. The pathognomonic features of the disease include a large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of the skull, and long anteroposterior dimension with unerupted dentition, dentigerous cyst-like follicles, condylar defects, and gingival hyperplasia. An 18-year-old boy with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is described in this article, emphasizing the oral manifestations and radiographic illustration of lesions in the jaws. It also emphasizes the essential role of cone-beam computed tomography to identify and analyze multicentric pathologies in the jaws.

Macroglossia Associated With Primary Systemic Amyloidosis - Case Report With Unusual Clinical Presentation.

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.