Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.

BACKGROUND: An easy-to-use tool to objectively measure intraoral anatomy with meaningful clinical correlations may improve care for patients with Beckwith-Wiedemann syndrome (BWS), who commonly have symptomatic macroglossia. METHODS: Children aged 2-17 years with BWS were enrolled between 12/2021 and 01/2024. Digital intraoral photographs with a laser ruler were taken, and morphometric measurements were made using ImageJ software. Relationships between morphometrics and outcomes including BWS clinical score, percentage mosaicism, and incidence of tongue reduction surgery were examined using t-tests and multivariate linear models. RESULTS: Pharyngeal morphometric measurements were obtained in 49 patients with BWS. Mouth area, width, and height differed significantly across BWS molecular subtypes. Right-to-left tongue width and mouth width were larger in those with loss of methylation at imprinting control region 2 (IC2 LOM) than other BWS variants. Patients with paternal uniparental isodisomy of chromosome 11p15 (pUPD11) had narrower mouths than others. Those with tongue reduction surgery had more tongue ridging than those without surgery. There were correlations between mouth area and BWS clinical score, tongue width and BWS clinical score, and tongue length and percentage mosaicism. CONCLUSION: Intraoral morphometric measurements are associated with phenotypic burden in BWS. Tongue morphology varies across the BWS spectrum, with IC2 LOM having wider tongues and mouths, and pUPD11 having narrower mouths. Tongue ridging is more common in those selected for surgery. Intraoral morphometric measurements may be safely obtained at low costs across centers caring for children with BWS or others at risk of upper airway obstruction.

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.

Systemic Amyloidosis Caused by Monoclonal Immunoglobulins: Soft Tissue and Vascular Involvement.

Clinical features of soft tissue amyloid light-chain (AL) amyloidosis include macroglossia, arthropathy, muscle pseudohypertrophy, skin plaques, and carpal tunnel syndrome. Vascular manifestations of AL amyloid include periorbital ecchymosis, jaw or limb claudication, and even myocardial infarction caused by occlusion of small vessel coronary arteries. Some of these features, such as macroglossia, periorbital ecchymosis, and the so-called shoulder-pad sign, are pathognomonic for AL amyloidosis. These findings may be the initial presenting features of the disease, and the recognition of these red flag symptoms is very important for the diagnosis and early intervention on the underlying plasma cell disease.

[A woman with a painful and enlarged tongue]. / Een vrouw met een pijnlijk vergrote tong.

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.

Epidermoid Cyst of Tongue.

Epidermoid cyst occurring within the tongue is rare. A 5 year old male child was brought to OPD with a tongue mass which was gradually increasing in size. There was associated difficulty in speech and mastication as the swelling increased in size. Intraoral examination revealed moderately tender,fluctuant and enlarged tongue. A diagnosis of dermoid cyst was made and the patient was booked for surgery. Excision of the cyst was done under general anaesthesia. Post-operative histopathology was done. The histopathological findings confirm the diagnosis of an epidermoid cyst, characterized by the presence of: (I) a cyst cavity lined by stratified squamous epithelium with keratinization on the surface; and (II) connective tissue with a mild inflammation. The proposed treatment was considered successful as the case was solved and there was no recurrence.

A case of symmetrical lipomatosis of the tongue presenting as macroglossia.

UNLABELLED: Lipomas are the most common benign soft tissue mesenchymal tumours composed of mature adipose tissue. They are uncommon in the oral and maxillofacial regions, with 15-20 % of cases involving the head and neck region and less than 5% of all benign oral lesions. Multiple symmetric lipomatosis is rare and characterized by diffuse growth and nonencapsulated lipomas. It is usually found in the posterior neck and upper trunk and they are relatively infrequent on the oral and maxillofacial regions like Madelung disease. In the report, we describe a rare case of symmetrical lipomatosis of tongue with OSAS and Dysartria. This lesions were resected under general anesthesia. Intraoperative findings revealed only adipose tissues with replacement of lingual muscles and no capsulation. The lesion was finally diagnosed as symmetric lipomatosis of the tongue based on clinical radiological and histologic examination. SLT (Symmetrical lipomatosis of the tongue) is an extremely rare case that appears like a macroglossia. Partial glossectomy is the treatment of choice because of the improvement of symptoms and the low rate of recurrence. KEY WORDS: Macroglossia, Oral lipoma, Tongue lipomatosis.

Alternative treatment for open bite Class III malocclusion in a child with Williams-Beuren syndrome.

Williams-Beuren syndrome (WBS) is a rare genetic condition that affects approximately 1 in every 20,000 - 50,000 live births. WBS children have specific skeletal deformities, dental malformations and rare lingual muscle dysfunction. The need for orthodontic and orthognathic therapy has arisen and has been considered a real clinical challenge even for experienced professionals, once it requires a complex and individualized treatment plan. This study reports a case of orthopedic expansion of the maxilla, in which a modified facial mask was used for protraction of the maxillary complex associated with clockwise rotation of the maxilla. In addition, special considerations about treatment time and orthopedic outcomes are discussed.

[Wiedemann-Beckwith syndrome: a new approach for reduction glossoplasty using Ultracision(®)]. / Syndrome de Wiedemann-Beckwith - glossectomie de réduction par Ultracision(®) : une approche novatrice.

INTRODUCTION: A reduction glossectomy may be complicated by tongue and mouth floor edema and extend the recovery time for a normal tongue function. We performed reduction glossectomy using Ultracision(®), an ultrasonic vibrating device, so as to limit these complications. TECHNICAL NOTE: We performed a keyhole glossoplasty under general anesthesia. The initial tongue incision was performed with a cold scalpel, then the glossectomy was continued with Ultracision(®) only. We also used CURVED SHEARS(®). We evaluated our preliminary results with 3 patients presenting with Wiedemann-Beckwith syndrome. CONCLUSION: Ultracision(®) is a useful tool for intra-oral surgery, and should soon be more frequently used. It is an alternative to electrocautery for this type of surgery.

Lymphangioma of the tongue: report of four cases with dental aspects.

Lymphangiomas are rare congenital malformations which are commonly seen in the head and neck region. The disease can be histologically differentiated from other vascular disorders such as cavernous or capillary hemangioma with the lymphatic endothelium-lined cystic spaces. The onset of lymphangiomas are either at birth (60 to 70%) or up to two years of age (90%). It is rare in adults. The therapeutic strategy is mainly based on the surgical removal of the lesion. The risk of recurrence is high in incomplete removal of the lesion. In this article, we discuss the major clinical manifestations, disease-related impairments and dental problems which patients may face as well as treatment options for lymphangioma of the tongue. Within this context, we present four cases of lymphangioma of tongue, including two with a giant macroglossia leading problems in dentition and related dental problems.

The surgical management of severe macroglossia in systemic AL amyloidosis.

Amyloidosis is a disease characterised by the deposition in body tissues of amyloid: abnormal protein in a beta pleated sheet formation. It is a systemic disorder and macroglossia may be seen in all forms. Changes to the normal architecture of the tissues and systemic features of the disease and its underlying cause can complicate the surgical management of the enlarged tongue.

Treatment of skeletal open-bite malocclusion with lymphangioma of the tongue.

Lymphangioma of the tongue causes massive tongue enlargement, leading to difficulties in swallowing and mastication, speech disturbances, airway obstruction, and skeletal deformities such as open-bite malocclusion. Early reduction of tongue volume improved the excessive open bite in a young girl, but it was not sufficient to redirect the original hyperdivergent growth pattern. Orthodontic camouflage treatment was therefore rendered. Long-term evaluation after tongue-reduction surgery and orthodontic treatment is presented.

[A tongue biopsy led to the diagnosis]. / Die Diagnose liegt auf der Zunge.

A 76-year-old patient in otherwise good health presented with a 2-year history of bilateral painless submandibular swelling and macroglossia. A standard ENT examination revealed no additional symptoms. Tongue biopsy led to the diagnosis of amyloidosis, serum immunofixation identified AL amyloidosis and a kappa light chain gammopathy resulting from multiple myeloma as the underlying cause.

Amiloidosis extrema asociada a mieloma múltiple e insuficiencia renal terminal: Caso clínico / Primary amyloidosis associated with multiple myeloma and renal failure: Case report

We report a 53-year-old female on chronic dialysis, presenting with weight loss, the development of big soft masses in the shoulders ("shoulder pads"), forearms and buttocks, macroglossia and rigidity of hands and lower limbs. Laboratory confirmed the presence of amyloidosis and myeloma with lambda chain restricted plasma cell infiltration of bone marrow. The diagnosis of multiple myeloma associated with primary amyloidosis in a patient with terminal renal failure, was reached.

Macroglossia - not always AL amyloidosis.

AL amyloidosis and transthyretin (ATTR) amyloidosis are the most frequent forms of systemic amyloidosis diagnosed in the United States. Macroglossia is considered to be a pathognomonic feature of AL amyloidosis. We report on two cases of systemic amyloidosis with macroglossia that defied routine clinical diagnosis, in which the deposits were typed as ATTR in one case and AL in the other using immunoelectron microscopy. These cases highlight: (1) the difficulty of typing amyloidosis on clinical criteria alone; (2) the utility of immunoelectron microscopy and (3) that macroglossia, while occurring much more frequently in AL, can also accompany ATTR amyloidosis.