Macroglossia

Macroglossia: The Condition of an Enlarged Tongue

Macroglossia is the medical nomenclature used to describe a condition where an individual has an abnormally large tongue. Although considered a rare condition, it's predominantly observed in children and can pose a range of functional and aesthetic challenges.

A child exhibiting the signs of macroglossia.

Overview

An enlarged tongue can significantly impact daily life, manifesting challenges in:

• Speaking: Speech can become unclear or difficult.
• Eating: It can hinder proper chewing and tasting.
• Swallowing: The act of swallowing might be impaired.
• Sleeping: There's an increased risk of obstructive sleep apnea due to airway obstruction.

Causes

The underlying causes of macroglossia can be diverse:

• Congenital Causes: Conditions such as Down syndrome or Beckwith-Wiedemann syndrome.
• Vascular Malformations: Abnormalities in blood vessels of the tongue.
• Tumors: Benign or malignant growths can lead to tongue enlargement.
• Metabolic Disorders: Conditions such as acromegaly, where there's an overproduction of growth hormone.
• Infections: Some infections can lead to tongue swelling.
• Trauma or Injuries: Damage to the tongue can sometimes result in swelling.

Diagnosis

Macroglossia is primarily diagnosed through:

• Physical Examination: A visual and manual assessment of the tongue's size and texture.
• Medical History: Reviewing any underlying conditions or symptoms.
• Imaging Tests: MRI or CT scan to assess the tongue's structure and any internal abnormalities.
• Biopsy: In cases where tumors are suspected, a sample of the tongue tissue might be extracted and examined.

Treatment

The approach to treating macroglossia hinges on its root cause:

• Surgery: Reduction surgery might be recommended in severe cases to decrease the size of the tongue.
• Speech Therapy: To improve speech clarity and functionality.
• Dental Appliances: Devices to aid in proper bite alignment and protect the teeth.
• Medication: To address underlying conditions causing the enlargement.

Prognosis and Complications

If left untreated, macroglossia can result in:

• Chronic dental issues due to consistent pressure on the teeth.
• Persistent speech difficulties.
• Breathing problems, especially during sleep.

Early intervention and treatment can lead to better outcomes and minimize complications.

Signs and symptoms

Although it may be asymptomatic, symptoms usually are more likely to be present and more severe with larger tongue enlargements. Signs and symptoms include:

• Dyspnea - difficult, noisy breathing, obstructive sleep apnea or airway obstruction
• Dysphagia - difficulty swallowing and eating
• Dysphonia - disrupted speech, possibly manifest as lisping
• Sialorrhea - drooling
• Angular cheilitis - sores at the corners of the mouth
• Crenated tongue - indentations on the lateral borders of the tongue caused by pressure from teeth ("pie crust tongue")
• Open bite malocclusion - a type of malocclusion of the teeth
• Mandibular prognathism - enlarged mandible
• Mouth breathing
• Orthodontic abnormalities - including diastema and tooth spacing

A tongue that constantly protrudes from the mouth is vulnerable to drying out, ulceration, infection or even necrosis.

Causes

Macroglossia may be caused by a wide variety of congenital and acquired conditions. Isolated macroglossia has no determinable cause. The most common causes of tongue enlargement are vascular malformations (e.g. lymphangioma or hemangioma) and muscular hypertrophy (e.g. Beckwith–Wiedemann syndrome or hemihyperplasia). Enlargement due to lymphangioma gives the tongue a pebbly appearance with multiple superficial dilated lymphatic channels. Enlargement due to hemihyperplasia is unilateral. In edentulous persons, a lack of teeth leaves more room for the tongue to expand into laterally, which can create problems with wearing dentures and may cause pseudomacroglossia.

Amyloidosis is an accumulation of insoluble proteins in tissues that impedes normal function. This can be a cause of macroglossia if amyloid is deposited in the tissues of the tongue, which gives it a nodular appearance. Beckwith–Wiedemann syndrome is a rare hereditary condition, which may include other defects such as omphalocele, visceromegaly, gigantism or neonatal hypoglycemia. The tongue may show a diffuse, smooth generalized enlargement. The face may show maxillary hypoplasia causing relative mandibular prognathism. Apparent macroglossia can also occur in Down syndrome. The tongue has a papillary, fissured surface. Macroglossia may be a sign of hypothyroid disorders.

Other causes include mucopolysaccharidosis, neurofibromatosis, multiple endocrine neoplasia type 2B, myxedema, acromegaly, angioedema, tumors (e.g. carcinoma), Glycogen storage disease type 2, Simpson-Golabi-Behmel syndrome, Triploid Syndrome,

trisomy 4p,

fucosidosis,

alpha-mannosidosis, Klippel-Trenaunay-Weber syndrome, cardiofaciocutaneous syndrome, Ras pathway disorders, transient neonatal diabetes, and lingual thyroid.

Diagnosis

Macroglossia is usually diagnosed clinically. Sleep endoscopy and imaging may be used for assessment of obstructive sleep apnea. The initial evaluation of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith–Wiedemann syndrome.

Classification

The ICD-10 lists macroglossia under "other congenital malformations of the digestive system". Definitions of macroglossia have been proposed, including "a tongue that protrudes beyond the teeth during [the] resting posture" and "if there is an impression of a tooth on the lingual border when the patients slightly open their mouths". Others have suggested there is no objective definition of what constitutes macroglossia. Some propose a distinction between true macroglossia, when histologic abnormalities correlate with the clinical findings of tongue enlargement, and relative macroglossia, where histology does not provide a pathologic explanation for the enlargement. Common examples of true macroglossia are vascular malformations, muscular enlargement and tumors; whilst Down syndrome is an example of relative macroglossia. Pseudomacryglossia refers to a tongue that is of normal size but gives a false impression of being too large in relation to adjacent anatomical structures. The Myer classification subdivides macroglossia into generalized or localized.

Treatment

Treatment and prognosis of macroglossia depends upon its cause, and also upon the severity of the enlargement and symptoms it is causing. No treatment may be required for mild cases or cases with minimal symptoms. Speech therapy may be beneficial, or surgery to reduce the size of the tongue (reduction glossectomy). Treatment may also involve correction of orthodontic abnormalities that may have been caused by the enlarged tongue. Treatment of any underlying systemic disease may be required, e.g. radiotherapy.

Epidemiology

Macroglossia is uncommon, and usually occurs in children. Macroglossia has been reported to have a positive family history in 6% of cases. The National Organization of Rare Disorders lists macroglossia as a rare disease (less than 200 000 individuals in the US).

External links

Classification	ICD-10: Q38.2 (congenital)K14.8 (acquired) ICD-9-CM: 529.8 , 750.15 OMIM: 153630 MeSH: D008260 DiseasesDB: 7689
External resources	MedlinePlus: 002250 eMedicine: ent/746 Orphanet: 156207

See Also

• Oral Health
• Congenital Disorders
• Speech Therapy

References

[1] Neville, B.W., Damm, D.D., Allen, C.M., & Bouquot, J.E. Oral & Maxillofacial Pathology. Saunders Elsevier, 2016.

• Kumar, V., Abbas, A. K., & Aster, J.C. Robbins Basic Pathology. Elsevier, 2017.
• National Institutes of Health: Macroglossia: A Review

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