Macroglossia and less advanced dystrophic change in the tongue muscle of the Duchenne muscular dystrophy rat.

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked muscle disease caused by a complete lack of dystrophin, which stabilizes the plasma membrane of myofibers. The orofacial function is affected in an advanced stage of DMD and this often leads to an eating disorder such as dysphagia. Dysphagia is caused by multiple etiologies including decreased mastication and swallowing. Therefore, preventing the functional declines of mastication and swallowing in DMD is important to improve the patient's quality of life. In the present study, using a rat model of DMD we generated previously, we performed analyses on the masseter and tongue muscles, both are required for proper eating function. METHODS: Age-related changes of the masseter and tongue muscle of DMD rats were analyzed morphometrically, histologically, and immunohistochemically. Also, transcription of cellular senescent markers, and utrophin (Utrn), a functional analog of dystrophin, was examined. RESULTS: The masseter muscle of DMD rats showed progressive dystrophic changes as observed in their hindlimb muscle, accompanied by increased transcription of p16 and p19. On the other hand, the tongue of DMD rats showed macroglossia due to hypertrophy of myofibers with less dystrophic changes. Proliferative activity was preserved in the satellite cells from the tongue muscle but was perturbed severely in those from the masseter muscle. While Utrn transcription was increased in the masseter muscle of DMD rats compared to WT rats, probably due to a compensatory mechanism, its level in the tongue muscle was comparable between WT and DMD rats and was similar to that in the masseter muscle of DMD rats. CONCLUSIONS: Muscular dystrophy is less advanced in the tongue muscle compared to the masseter muscle in the DMD rat.

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.

Parotid Gland Venolymphatic Malformation Presentation As Macroglossia.

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.

Macroglossia in primary lateral sclerosis: a case report.

Purpose/Aim: Macroglossia is a rare condition, especially in patients with motor neuron disease. In this case report, we describe a patient with macroglossia in the early stages of motor neuron disease. Case report: A 62-year-old woman presented with macroglossia in the early stages of motor neuron disease. She was referred to the department of physical medicine and rehabilitation of a university hospital for rehabilitation with the diagnosis of motor neuron disease, most likely primary lateral sclerosis. Her speech was incomprehensible, and she also showed significant sialorrhea and had difficulty in chewing large solid food. Her tongue was enlarged on examination, and she could not close her mouth fully. No other possible causes of macroglossia were found. She showed nocturnal hypercapnia on overnight capnography examination coupled with desaturation, which was believed to result from the macroglossia. After commencing non-invasive ventilation with pressure control mode, follow-up overnight capnography revealed EtCO2 values within the normal range. Conclusions: To the best of our knowledge, this is the first report of macroglossia in PLS. Further study would be needed to ascertain the pathogenesis of this phenomenon.

[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.

Assessment of the impact of tongue size in patients with bimaxillary protrusion.

BACKGROUND: Tongue size, posture and pressure are considered to have significant influences on the positioning of dentoalveolar structures. Based on the equilibrium theory, forward resting posture of the tongue with light force and long duration could have both a horizontal and vertical effect on teeth. Bimaxillary proclination, a malocclusion trait often seen in African descents with multifactorial etiological factors, could well be related to tongue dimensions. OBJECTIVES: The aim of this study was to evaluate the relationship between tongue dimensions and bimaxillary proclination patients. METHODOLOGY: One hundred selected lateral cephalometric radiographs of consecutive orthodontic patients who met the study criteria were divided into study (bimaxillary proclination with interincisal angle [I/I]< 108°) and control (normal with interincisal relationship [I/I] ≥ 108°) groups. The subjects' tongues were pre-coated with barium sulphate before radiography in order to delineate the tongue outline. Tongue dimensions and the intermaxillary space surface area were determined and analyzed using SPSS version 11 and a computer programme for epidemiological analysis. RESULTS: The mean tongue measurements in the bimaxillary proclination group were higher than those in the control group except for tongue proportion. These differences were statistically significant for tongue thickness, tongue length and intermaxillary space length (P < 0.05). However, there was no statistically significant difference in the tongue area and intermaxillary space area between subjects with bimaxillary proclination and a normal interincisal relationship (P > 0.05). None of the variables (tongue thickness, tongue length, intermaxillary space length, tongue area and percentage tongue proportion) could be used as predictors for interincisal relationship. CONCLUSION: Tongue length, thickness and intermaxillary space length were significantly different between the bimaxillary and normal subjects. However, none of the measured tongue variables could be used as a predictor for incisor relationship.

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.