Macroglossia is a congenital or acquired enlargement of the tongue. Hypertrophy can be diffuse or partial. The tongue is massive, thick, and often protrudes outward. With pronounced macroglossia, episodes of nocturnal apnea occur, the functions of swallowing and speech are impaired. The examination includes an examination with the determination of the size of the lower jaw, auxiliary echographic and X-ray examinations. In the symptomatic form, drug treatment of the underlying disease is carried out. To reduce the tongue, its wedge-shaped excision is shown. With macroglossia of dysontogenetic origin, sclerosing therapy is performed.
ICD 10
Q38.2 Macroglossia
Meaning
Macroglossia (glossocele, broad, shovel–shaped tongue, megaloglossia) is a pathological enlargement or thickening of the entire tongue or its individual parts (tip, back, side surfaces). Among all diseases of the tongue, macroglossia is detected in 15% of cases. With pathologies of the endocrine system, the prevalence of hypertrophy reaches 33%. A negative correlation was recorded between glossocele and Ent pathology. Gender, age, geographical characteristics of morbidity have not been registered.
Causes
Birth defects
Glossocele can be congenital or acquired. The main causes of true congenital macroglossia are hereditary diseases, tumors of a dysontogenetic nature. Idiopathic muscular megaloglossia of unknown etiology is rare in the fetus. The causes of congenital macroglossia can be:
- Genetic syndromes. Hypertrophy of the tongue is one of the characteristic signs of Down, Simpson-Golabi-Bemel, Beckwith-Wiedemann syndromes. The detection of megaloglossia in the fetus may indicate mucopolysaccharidosis. With Pompe syndrome, glossocele is observed in 65% of cases.
- Congenital tumors. Macroglossia in the fetus can develop with a tumor of dysontogenetic genesis – lymphangioma. Hypertrophy of the tongue occurs due to increased proliferation of lymphatic vessels.
- Congenital hypothyroidism. The absence or underdevelopment of the fetal thyroid gland leads to congenital hypothyroidism with a deficiency or abnormal production of thyroid hormones. Infants with hypothyroidism are diagnosed with a wide “flattened” tongue.
Risk factors for the formation of fetal macroglossia:
- the presence in the family of cases of birth of a child with genetic pathology;
- the age of the mother is over 35 years old;
- iodine deficiency during pregnancy;
- toxic effect on the fetus of lead.
Acquired causes
Pathology develops after the birth of a child, is not associated with gene mutations or aggressive influence of external factors on the fetus during intrauterine development. The main causes of acquired macroglossia include:
- Injuries. Damage to the tongue is the cause of temporary macroglossia. The enlargement of the organ occurs due to hemorrhage into muscle tissue, post-traumatic edema.
- Endocrinopathies. Acromegaly and myxedema occur with megaloglossia. Against the background of hyperproduction of growth hormone in acromegaly, hypertrophy of muscle tissue is observed. With myxedema, edematous megaloglossia develops.
- Amyloidosis. It is characterized by a lesion of the muscles of the tongue due to the deposition of pathological protein in the tissues. Pronounced hypertrophic changes are diagnosed in every fifth patient.
- Chronic infectious diseases. Tuberculosis and tertiary syphilis belong to this group. Glossocele can also signal fungal diseases ‒ actinomycosis and blastomycosis.
- Neoplasms. The development of macroglossia is associated with the infiltration of muscle tissue by tumor cells. On examination, focal megaloglossia with localization corresponding to the affected area is detected.
- Angioedema. The cause of macroglossia is an acute allergic reaction. After the allergy attack is stopped, the swelling of the tongue subsides.
Pathogenesis
Due to gene mutations in hereditary diseases of Beckwith-Wiedemann, Simpson-Golabi-Bemel, cell proliferation increases, growth factors are catalyzed. This leads to the development of gigantism and macroglossia in the fetus. With mucopolysaccharidosis, due to a deficiency of lysosomal enzymes, the catabolism of glycosaminoglycans is disrupted. The deposition of the latter in the fetal muscle tissue is the cause of macroglossia.
Megaloglossia in lymphangioma is considered as a malformation of the fetal lymphatic vessels during embryogenesis. In hypothyroidism, excessive accumulation of glucosaminoglycans leads to mucinous edema, edema of the dermis and subcutaneous fat.
Acromegaly occurs with hyperproduction of pituitary hormones. The presence of a neoplasm – pituitary adenoma – contributes to an increase in the level of somatotropin, which is responsible for the growth and increase in the size of soft tissues. Changes in amyloidosis are caused by extracellular deposition of insoluble pathological fibrillar proteins.
Classification
According to the time and causes of development, congenital and acquired macroglossia are distinguished. Also in dentistry, true and false (relative) megaloglossia are distinguished.
- The true form is characterized by an objective increase in the size of the tongue.
- False glossocele is detected with a decrease in the oral cavity, the absence of incisors of the lower jaw or due to infiltration by tumor cells of the bottom of the oral cavity.
Depending on the degree of involvement of the muscle tissue of the tongue in the pathological process , 2 forms are distinguished:
- Diffuse – characterized by uniform hypertrophy of the entire organ. It occurs more often in children with genetic diseases, with disorders of the endocrine system, due to an acute allergic reaction.
- Partial – accompanied by focal thickening of the tip, root or back, as well as asymmetry of the tongue. Injuries, specific infectious diseases, tumors are the causes of partial macroglossia.
Symptoms
Congenital macroglossia
A newborn baby with a glossocele has a massive tongue that does not fit in the oral cavity, it is constantly stuck out, the mouth is slightly open. Teeth marks are visible on the sides in the molar area, salivation is noted. Hypertrophy of the organ is diffuse. In newborns, megaloglossia makes breastfeeding difficult. In the future, there are problems with chewing, articulation, dental deformities develop. Other concomitant symptoms depend on the underlying pathology.
With genetically determined Simpson-Golabi-Bemel and Beckwith-Wiedemann diseases, swallowing is impaired in children, breathing is difficult. With teething, a mesial bite is formed. Down syndrome is characterized by an enlarged folded “geographical language”.
With diffuse lymphangioma, the tongue is enlarged, has a flask-like thickening of the anterior section, tooth prints. Multiple vesicles are visible on the mucous membrane. The sick child’s mouth is slightly open. An open bite is formed with excessive development of the lower jaw and chin.
Acquired macroglossia
The acquired form of macroglossia develops during life against the background of another disease or injury. In patients with acromegaly, the lower jaw is pushed forward, due to the large size of the tongue protrudes from the oral cavity. There is papillary hypertrophy on the back, there may also be furrows, folds.
Blastomycosis occurs with the formation of nodes in the thickness of the mucosa. Due to inflammatory infiltration, the tongue with actinomycosis looks cyanotic and “woody”. Tertiary syphilis is characterized by an enlarged and compacted tongue with further scarring.
Macroglossia in tuberculosis develops slowly. Hypertrophy is preceded by the formation of a tuberculous node in the thickness of the muscle tissue. There is no inflammatory reaction. Patients do not complain of soreness. With amyloid macroglossia, the tongue is dense, the papillae are smoothed, the consistency is waxy. The dimensions can be increased by 2 times. Tooth prints are detected on the side surfaces.
Complications
A newborn with megaloglossia may experience nocturnal apnea, a condition accompanied by short–term respiratory arrest. Articulation is impaired, dysphagia is often diagnosed – a swallowing disorder. Excessive pressure of the tongue on the front teeth is the reason for the formation of a pathological bite in a child.
During a clinical examination, progenia is detected (a massive lower jaw protrudes forward) with the absence of occlusive contact between the anterior and sometimes lateral teeth of the upper and lower jaws. Since the mouth of patients is constantly ajar, dryness of the lip mucosa is observed, followed by the formation of cracks. The addition of a secondary infection leads to the development of inflammation.
Diagnostics
Since macroglossia in the vast majority of cases is symptomatic, a comprehensive examination is necessary. During a clinical examination, the shape and size of the tongue are evaluated. To differentiate the true pathology from the false one, the dimensions of the lower jaw are determined. The child is examined by a pediatrician, maxillofacial surgeon, geneticist. Additional methods:
- Ultrasound diagnostics. Ultrasound during pregnancy allows you to detect macroglossia in the fetus even in utero. After birth, to exclude hypothyroidism, the child is prescribed an ultrasound of the thyroid gland. In the presence of palpable formations in the thickness of the organ, ultrasound of the tongue is performed.
- X-ray diagnostics. Overview radiography of the facial and cerebral skull is used to confirm hereditary pathology. Esophagography – contrast radiography of the esophagus – is performed to analyze the function of swallowing.
- MRI and CT of the oral cavity. An MRI is performed if a neoplastic process is suspected. CT of the tongue is prescribed in urgent situations for young children with severe swallowing dysfunction, respiratory disorders.
- Laboratory tests. A blood test for hormone levels helps to exclude endocrine pathology in a child. Neonatal screening for congenital hypothyroidism can reveal pathology in infants. Specific laboratory tests are designed to diagnose a chronic infectious disease (tuberculosis, syphilis).
Treatment
Conservative therapy
Conservative treatment is effective in detecting transient macroglossia in a child. If megaglossia has developed as a result of endocrine dysfunction or hyperfunction, specific inflammatory diseases (syphilis, tuberculosis), drug treatment of the underlying pathology is indicated. Patients with glossitis due to the addition of a secondary infection are prescribed antiseptic rinses, local anti-inflammatory drugs, antibiotics. In case of detection of candidiasis infection, antifungal drugs are used.
Surgical treatment
The presence of nocturnal apnea, swallowing disorders, articulation disorders in a child is a direct indication for surgical intervention. With true hypertrophy, a wedge-shaped excision of a part of the tongue is performed. In patients with an isolated form of pathology of unknown etiology, ligation of the lingual artery is resorted to. The restriction of blood supply partially suspends the hypertrophy of the organ, but the use of this technique is a controversial issue.
With a diffuse tumor – lymphangioma – sclerosing therapy is used with 2-3 times the introduction of 2 ml of 70% ethyl alcohol. Sometimes short-focus radiation therapy is prescribed.
In the postoperative period, the degree of edema is monitored, breathing is monitored with an assessment of cardiac activity. To avoid infection of the wound surface, antibiotics are prescribed. During rehabilitation, a speech therapist works with the child. Consultations of a somnologist and an orthodontist are also shown.
Prognosis and prevention
The prognosis depends on the etiology. Correct treatment of concomitant pathology in combination with surgical plastic surgery gives satisfactory results. Already during the first 3-4 months after surgery, external breathing and swallowing are restored, speech clarity improves. Specific measures of primary prevention of macroglossia have not been developed. The basis of secondary prevention is compliance with the basic rules of oral hygiene.
Literature
- Moher D, Shultz K. F, Altman D. G. The CONSORT statement: revised recommendations for improving the quality of reports of parallel-group randomized trials. Ann. Intern. Med. 2001; 8: 657-662. link
- Richard D. Th. III, Schneiderman T, Tala-vera F, Allen G. C, Slack C. L, Meyers A. D. Macroglossia
- Ueyama Y., Mano T, Nishiyama A et al. Effects of surgical reduction of the tongue. Br. J. Oral. Maxillofac. Surg. 1999; 37 (6): 490495. link
- Vogel J. E, Mulliken J. B, Kaban L. B. Macro-glossia: a review of the condition and a new classification. Plast. Reconstr. Surg. 1986; 78 (6): 715-723. link
- Weiss L. S, White J. A Macroglossia: a review. J. La. State Med. Soc. 1990; 142 (8): 13-16.
