The mouth, tongue and lips
Kevin G Burnand, John Black, Steven A Corbett, William EG Thomas, Norman L Browse in Browse’s Introduction to the Symptoms & Signs of Surgical Disease, 2014
Macroglossia is a large tongue. The causes of macroglossia are: multiple haemangiomas;lymphangiomas;plexiform neurofibromatosis;amyloid infiltration;infiltrating carcinoma;muscle hypertrophy (in cretinism);endocrine disorders such as acromegaly.
Simpson–Golabi–Behmel Syndrome
Dongyou Liu in Handbook of Tumor Syndromes, 2020
Distinctive facies include (i) macrocephaly (70% of cases); (ii) ocular hypertelorism, epicanthal folds, downslanting palpebral fissures, strabismus or esotropia, cataracts, coloboma of the optic disc, ocular nerve palsies; (iii) redundant, furrowed skin over the glabella; (iv) wide nasal bridge and anteverted nares in infants, broad nose in older individuals; (v) macrostomia (abnormally large mouth); (vi) macroglossia (abnormally large tongue); (vii) dental malocclusion; (viii) midline groove in the lower lip and/or deep furrow in the middle of the tongue; (ix) cleft lip and/or submucous cleft palate (with a bifid uvula, 13%), high and narrow palate; (x) micrognathia (small mandible) in neonates, macrognathia in older individuals; (xi) preauricular tags, fistulas, ear lobule creases, helical dimples [2].
Plasma Cell Neoplasms
Tariq I. Mughal in Precision Haematological Cancer Medicine, 2018
AL is considered by the WHO to be a rare plasma cell neoplasm, characterized by a clonal expansion of plasma cells which produce kappa or lambda light chains. In general, the actual bone marrow clonal plasma cell burden is quite small, typically 5–7%, but the amyloid protein can affect multiple organs, in particular, cardiac and renal, resulting in progressive cardiac failure and nephrotic syndrome/renal failure, respectively. Most patients, however, present with non-specific symptoms and a definitive diagnosis is often difficult and considerably delayed, in the absence of a high degree of suspicion by the treating physician, sometimes facilitated by unique presentations, for example, macroglossia (Figure 12.15). The difficulties in obtaining an accurate diagnosis are challenged additionally by a limited expertise in accurately interpreting the Congo red stain, which has a remarkable affinity for amyloid, independent of its subtype, and remains the only accepted diagnostic test for amyloidosis (Figure 12.16). Congo red stain demonstrates amyloid as a green birefringence under polarized light (Figure 12.17). Another highly specific diagnostic method, available in some specialized centres, is a combination of laser microdissection and tandem mass spectrometry-based proteomic analysis. This test is able to establish the amyloid subtype, an important criterion for therapy.
Macroglossia secondary to lisinopril-induced acute angioedema
Published in Baylor University Medical Center Proceedings, 2019
Colten Ducote, Matthew J. Kesterke, Ritesh Bhattacharjee, Andrew Read-Fuller, Likith V. Reddy
Macroglossia is a clinical condition resulting in enlargement of the tongue beyond the anterior teeth.1 The condition is caused by vascular anomalies, allergic reactions,2,3 or congenital conditions.4–8 Angiotensin-converting enzyme inhibitors (ACEIs) are the most common medication causing angioedema.9,10 Studies found that the incidence of ACEI angioedema is higher in older adults, patients with chronic heart failure, and African American women.11 ACEIs also inhibit the kallikrein-kinin system from degrading bradykinin, leading to increased vasodilation.12,13 Angioedema can cause significant swelling, resulting in acute airway obstruction and eventual death.5,12,14 Partial glossectomy is a valid treatment option for macroglossia that does not resolve with medication.5,7 This case report documents the diagnoses and surgical treatment of two cases of ACEI-induced angioedema and macroglossia treated at Baylor University Medical Center (BUMC) at Dallas.
Macroglossia in primary lateral sclerosis: a case report
Published in International Journal of Neuroscience, 2019
Min Cheol Chang, Soyoung Kwak
In 2013, McKee et al. reported that two patients with ALS who had developed macroglossia. In that study, both patients initially showed tongue atrophy; after tracheostomy and continuous mechanical ventilation had been applied, they eventually developed macroglossia. A tongue biopsy and an MRI scan of the patients revealed atrophy of the tongue muscles and fatty replacement, resulting in macroglossia. Similarly, Matsuda et al. also reported 22 patients out of 65 advanced ALS patients with tracheostomy and continuous mechanical ventilation (33.8%) showed macroglossia. The same author group also reported that the majority of patients with macroglossia (93.3%) had undergone tracheostomy and received continuous mechanical ventilation for more than five years in another study [3].
Utility of the 18F-Florbetapir positron emission tomography in systemic amyloidosis
Published in Amyloid, 2018
Jaume Mestre-Torres, Carles Lorenzo-Bosquet, Gemma Cuberas-Borrós, Mercedes Gironella, Roser Solans-Laque, Andreu Fernández-Codina, Segundo Bujan-Rivas, Joan Castell-Conesa, Fernando Martínez-Valle
PET correctly identified the presence of thyroid disease. It also showed tongue involvement despite patients not having macroglossia. Lung involvement was present in 1 patient without previous clinical suspicion. Stomach involvement could not be proven using FBP.
Related Knowledge Centers
- Dysphagia
- Hypersalivation
- Malocclusion
- Obstructive Sleep Apnea
- Shortness of Breath
- Angular Cheilitis
- Shortness of Breath
- Hoarse Voice
- Lisp
- Crenated Tongue
- Open Bite Malocclusion