Macroglossia

Macroglossia can be associated with a wide range of congenital (present from birth) and acquired conditions, or it can occur as an isolated feature (with no other abnormalities). In most cases, it is due to vascular malformations (blood vessel abnormalities) and muscular hypertrophy (an increase in muscle mass).^[1]

Congenital or inherited causes of macroglossia may include various syndromes (e.g. Beckwith-Wiedemann syndrome or Down syndrome); hemangioma; congenital hypothyroidism; mucopolysaccharidosis; and neurofibromatosis.

Acquired causes may include metabolic or endocrine conditions such as hypothyroidism, amyloidosis, and acromegaly; inflammatory/infectious diseases such as pemphigus vulgaris, diphtheria, tuberculosis, and sarcoidosis; and trauma.

Neoplastic conditions (involving abnormal or uncontrolled cell growth) may also cause macroglossia, such as lymphangioma or various malignancies (cancers).^[1]

In some cases, macroglossia occurs as an isolated hereditary trait that is inherited in an autosomal dominant manner.^[2]

Specialists that may be involved in assessing or treating a person with macroglossia may include plastic surgeons or oral and maxillofacial surgeons; orthodontists; otolaryngologists (ear, nose and throat doctors); dentists; and speech and language therapists.

While macroglossia may have various causes, a carefully evaluated patient history can typically indicate the cause and determine the types of lab tests that may be needed. Tests may help to confirm a suspected cause or to determine the extent of the abnormality.

Imaging tests for a person with macroglossa may include CT scan and MRI; ultrasonography; panorex (panoramic X-ray) and cephalometric radiograph (image of the head); and/or a barium swallow study. Diagnostic procedures, such as a biopsy or fine needle aspiration, may be performed depending on the suspected cause of macroglossia.

Medical therapy for macroglossia is useful when the underlying cause is identified, and the cause is medically treatable - such as hypothyroidism, infection, or amyloidosis. No medical treatments have been proven useful when the cause is unclear. Surgery to reduce the size of the tongue may be an option for people with macroglossia. Most studies have shown that surgical procedures for macroglossia lead to improved physical appearance, speech, chewing and feeding.^[1]

More detailed information about the treatment options for macroglossia is available on Medscape Reference's Web site.

Specialists that may be involved in assessing or treating a person with macroglossia may include plastic surgeons or oral and maxillofacial surgeons; orthodontists; otolaryngologists (ear, nose and throat doctors); dentists; and speech and language therapists. People with macroglossia are encouraged to speak with their medical and/or dental providers who may be able to provide a referral to a specialist with knowledge of the condition.

The American College of Oral and Maxillofacial Surgeons and the American Society of Maxillofacial Surgeons have member directories on their Web sites that can be searched by location.

It may also be helpful to view our article, How to Find a Disease Specialist, which contains resources that may be able to assist you in your search for a healthcare professional who has experience with macroglossia.