Macroglossia

Macroglossia
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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<ref name="Perkins 2009">Perkins, JA,

 Overview of macroglossia and its treatment., 
 Current Opinion in Otolaryngology & Head and Neck Surgery, 
 
 Vol. 17(Issue: 6),
 pp. 460–5,
 DOI: 10.1097/moo.0b013e3283317f89,
 PMID: 19713845,</ref> or airway obstruction<ref name="OMF pathology textbook" />

• Dysphagia - difficulty swallowing and eating<ref name="OMF pathology textbook" />
• Dysphonia - disrupted speech, possibly manifest as lisping<ref name="OMF pathology textbook" />
• Sialorrhea - drooling<ref name="OMF pathology textbook" />
• 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")<ref name="OMF pathology textbook" />
• Open bite malocclusion - a type of malocclusion of the teeth<ref name="OMF pathology textbook" />
• Mandibular prognathism - enlarged mandible<ref name="OMF pathology textbook" />
• Mouth breathing
• Orthodontic abnormalities - including diastema and tooth spacing<ref name="Topouzelis 2011" />

A tongue that constantly protrudes from the mouth is vulnerable to drying out, ulceration, infection or even necrosis.<ref name="OMF pathology textbook" />

Causes

Macroglossia may be caused by a wide variety of congenital and acquired conditions. Isolated macroglossia has no determinable cause.<ref name="Prada 2011" /> 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).<ref name="OMF pathology textbook" /> 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.<ref>Merck Manual 17th Ed.</ref> 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.<ref name="pmid10981990">Dios, Pedro Diz,

 Treatment of macroglossia in a child with Beckwith–Wiedemann syndrome, 
 Journal of Oral and Maxillofacial Surgery, 
 
 Vol. 58(Issue: 9),
 pp. 1058–61,
 DOI: 10.1053/joms.2000.8753,
 PMID: 10981990,</ref>

The tongue may show a diffuse, smooth generalized enlargement.<ref name="OMF pathology textbook" /> The face may show maxillary hypoplasia causing relative mandibular prognathism. Apparent macroglossia can also occur in Down syndrome.<ref name="pmid18685841">,

 Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea, 
 Pediatr Radiol, 
 
 Vol. 38(Issue: 10),
 pp. 1062–7,
 DOI: 10.1007/s00247-008-0941-7,
 PMID: 18685841,</ref> The tongue has a papillary, fissured surface.<ref name="OMF pathology textbook" /> Macroglossia may be a sign of hypothyroid disorders.

Other causes include mucopolysaccharidosis,<ref>

Mucopolysaccharidosis type I(link). {{{website}}}.

</ref> neurofibromatosis,<ref name="OMF pathology textbook" /> multiple endocrine neoplasia type 2B,<ref name="OMF pathology textbook" /> myxedema,<ref name="OMF pathology textbook" /> acromegaly,<ref name="OMF pathology textbook" /> angioedema,<ref name="OMF pathology textbook" /> tumors (e.g. carcinoma),<ref name="OMF pathology textbook" /> Glycogen storage disease type 2,<ref>http://moon.ouhsc.edu/kfung/jty1/neurohelp/ZNN0IE23.htm</ref> Simpson-Golabi-Behmel syndrome,<ref name="Prada 2011" /><ref>

Omim - Simpson-Golabi-Behmel Syndrome, Type 1; Sgbs1 - Omim - Ncbi(link). {{{website}}}.

</ref> Triploid Syndrome,

trisomy 4p,

fucosidosis,

alpha-mannosidosis,<ref>

Omim - Mannosidosis, Alpha B, Lysosomal; Mansa - Omim - Ncbi(link). {{{website}}}.

</ref> Klippel-Trenaunay-Weber syndrome,<ref name="Prada 2011" /> cardiofaciocutaneous syndrome,<ref name="Prada 2011" /> Ras pathway disorders,<ref name="Prada 2011" /> transient neonatal diabetes,<ref name="Prada 2011" /> and lingual thyroid.<ref name="Cawson textbook">R. A.,

 Cawson's essentials of oral pathology and oral medicine, 
 7th edition, 
 Edinburgh:Churchill Livingstone, 
 2002, 
  
  
 ISBN 0443071055,</ref>

Diagnosis

Macroglossia is usually diagnosed clinically.<ref name="Topouzelis 2011" /> Sleep endoscopy and imaging may be used for assessment of obstructive sleep apnea.<ref name="Perkins 2009" /> The initial evaluation of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith–Wiedemann syndrome.<ref name="Prada 2011" />

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".<ref name="Prada 2011" /> Others have suggested there is no objective definition of what constitutes macroglossia.<ref name="Vogel 1986">Vogel, JE,

 Macroglossia: a review of the condition and a new classification., 
 Plastic and Reconstructive Surgery, 
 
 Vol. 78(Issue: 6),
 pp. 715–23,
 DOI: 10.1097/00006534-198678060-00001,
 PMID: 2947254,</ref> 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.<ref name="Vogel 1986" /> 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.<ref name="Topouzelis 2011">Topouzelis, N, 
 Macroglossia., 
 International Dental Journal, 
 
 Vol. 61(Issue: 2),
 pp. 63–9,
 DOI: 10.1111/j.1875-595x.2011.00015.x,
 PMID: 21554274,</ref> The Myer classification subdivides macroglossia into generalized or localized.<ref name="Prada 2011">Prada, CE, 
 Genetic causes of macroglossia: diagnostic approach., 
 Pediatrics, 
 
 Vol. 129(Issue: 2),
 pp. e431-7,
 DOI: 10.1542/peds.2011-1732,
 PMID: 22250026,</ref>

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.<ref name="Topouzelis 2011" /> Treatment of any underlying systemic disease may be required, e.g. radiotherapy.<ref name="Topouzelis 2011" />

Epidemiology

Macroglossia is uncommon, and usually occurs in children.<ref name="OMF pathology textbook">{{{last}}},

 Douglas D. Damm, 
  
 Oral & maxillofacial pathology, 
 2nd edition, 
 Philadelphia:W.B. Saunders, 
 2002, 
  
  
 ISBN 0721690033, 
  
  
  
 Pages: 9–10,</ref> 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).<ref name="Prada 2011" />

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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