eMedicine Specialties > Otolaryngology and Facial Plastic Surgery > Pediatric Otolaryngology

Macroglossia

Author: Richard D Thrasher III, MD, Private Practice, McKinney, Texas
Contributor Information and Disclosures

Updated: Feb 8, 2010

Introduction

Macroglossia, meaning large tongue, has been a documented anatomical anomaly for several centuries but remains an entity defined more by presentation than by strict cephalometric analysis. The earliest known written description of tongue lesions comes from the Egyptian Papyrus Ebers, originally thought to be from around 1550 BC.

Obviously, tongue lesions have since been categorized by their etiologies. Macroglossia has an extensive list of possible causes. Its treatment has been largely surgical in the modern era.

An image depicting the mouth cavity can be seen below.

History of the Procedure

Historically, a number of medical interventions have been tried. Egyptians used milk gargles and various chewed concoctions to treat lesions of the tongue. Other forms of treatment have included sclerosing agents (mercury and potassium), leeches, and physical entrapment of the tongue within a bound oral cavity. All of these treatments have appeared in the literature as recently as the 20th century.

Similar to the history of medical intervention, surgical intervention for macroglossia began without an understanding of the cause and proceeded to truly barbaric forms of resection until its reform in the last 100 years.

Early surgical interventions included making cuts on the tongue to promote bleeding and the insertion of roughened instruments into the body of the tongue multiple times in order to promote scarring and retraction. As late as 1865, a physician went so far as to tie off the external carotid artery on one side and, when that did not prove helpful, tied off the common carotid on the other. The patient survived, and her tongue reportedly decreased to near normal in size, despite the blatant vascular risks.

In the late 1600s in Sweden, a young female patient was treated by amputating the protruded portion of the tongue. Her recovery allowed for normal swallowing. Hemorrhage must have been severe because the lingual arteries were not ligated. Surgical resection did not gain favor widely until after 1900. Prior to that time, the use of various ligatures dominated the attempts at surgical reduction. Tying a wire around the tongue was particularly gruesome and painful with the necrotic tongue taking up to 2 weeks to slough off.

The most common ligature instrument was the écraseur, which literally means crusher in French. An instrument that resembled a snare, the écraseur had, instead of a wire loop, one made of chain links like those found on a chain saw or bicycle. At the end of the snare handle was a screw that tightened the chain. This instrument was applied across the portion of the tongue that was to be removed and tightened one link every hour until the necrosing portion was removed. Sometimes, the écraseur was tightened at a rate of 1 notch every 2 minutes until the écraseur cut through the tongue rather than necrosing it. The complications reported were great, but those who survived did well in terms of swallowing and speech.

In 1900, Butlin and Spencer severely condemned all previous treatments and stated, "There is only one treatment—wedge shaped excision." This remains the standard today, although it has been modified in a number of different ways since then.

Problem

Multiple studies have attempted to define macroglossia by objective measurements based on a variety of clinical and radiographic tests. However, because of the difficulty in performing these tests and because intervention is not based on measurements but on clinical presentation, macroglossia is most often diagnosed subjectively.

Ueyama and others defined macroglossia as occurring when 1 of the following 3 criteria is met:¹ (1) extravasation of the lingual apex or lingual border onto or outside the dentition; (2) the impression of one or more teeth on the lingual border visualized when the mouth is open; or (3) following surgery for correction, a relapse of increased interdental space, open bite deformity, and/or jaw deformation with malocclusion occurs.

As with many lesions, medicine has identified a triad for those with macroglossia. It includes open bite deformity, mandibular prognathism, and malalignment.

Frequency

Although the exact incidence of macroglossia is unknown (because the etiologies are too numerous to quantify), some congenital syndromes often express macroglossia in their phenotypes, most commonly Down syndrome (1 per 700 live births) and Beckwith-Wiedemann syndrome (0.07 pre 1000 live births). In Beckwith-Wiedemann syndrome, 97.5% of patients have macroglossia. The literature documents 2 families with autosomal dominant inheritance of isolated macroglossia.

Etiology

Reports on the etiology of macroglossia are extensive. Historically, Virchow described it as a form of elephantiasis. In the last 100 years, Butlin and Spencer attributed it to the dilation of lymphatics, muscle hypertrophy, or inflammation. Because of the large number of possible etiologies, multiple classification schemes have been used to list the causes. Detailed below is the most comprehensive in the author's opinion.

The 2 broadest categories under the heading of macroglossia are true enlargement and pseudomacroglossia.

Pseudomacroglossia includes any of the following conditions, which force the tongue to sit in an abnormal position:

• Habitual posturing of the tongue
• Enlarged tonsils and/or adenoids displacing tongue
• Low palate and decreased oral cavity volume displacing tongue
• Transverse, vertical, or anterior/posterior deficiency in the maxillary or mandibular arches displacing the tongue
• Severe mandibular deficiency (retrognathism)
• Neoplasms displacing the tongue
• Hypotonia of the tongue

True macroglossia can be subdivided into 2 main subcategories: congenital causes and acquired causes.

• Congenital causes
  • Idiopathic muscle hypertrophy
  • Gland hyperplasia
  • Hemangioma
  • Lymphangioma
  • Down syndrome
  • Beckwith-Wiedemann syndrome
  • Behmel syndrome
  • Lingual thyroid
  • Gargoylism
  • Transient neonatal diabetes mellitus
  • Trisomy 22
  • Laband syndrome
  • Lethal dwarfism of Blomstrand
  • Mucopolysaccharidoses
  • Skeletal dysplasia of Urbach
  • Tollner syndrome
  • Autosomal dominant inheritance
  • Microcephaly and hamartoma of Wiedemann
  • Ganglioside storage disease type I
• Acquired causes (Categories have been assigned to simplify the list, but there can be overlap of a particular etiology into more than one of these categories.)
  • Metabolic/endocrine
    • Hypothyroidism
    • Cretinism
    • Diabetes
  • Inflammatory/infectious
    • Syphilis
    • Amebic dysentery
    • Ludwig angina
    • Pneumonia
    • Pemphigus vulgaris
    • Rheumatic fever
    • Smallpox
    • Typhoid
    • Tuberculosis
    • Actinomycosis
    • Giant cell arteritis
    • Candidiasis
    • Scurvy
    • Pellagra
  • Systemic/medical conditions
    • Uremia
    • Myxedema
    • Hypertrophy
    • Acromegaly
    • Neurofibromatosis
    • Iatrogenic macroglossia
  • Traumatic
    • Surgery
    • Hemorrhage
    • Direct trauma (eg, biting)
    • Intubation injury
    • Radiation therapy
  • Neoplastic
    • Lingual thyroid
    • Lymphangioma
    • Hemangioma
    • Carcinoma
    • Plasmacytoma
  • Infiltrative
    • Amyloidosis
    • Sarcoidosis

Pathophysiology

Because the pathophysiology of the enlarged tongue is related to the specific etiology, defining the pathophysiology of each is beyond the scope of this discussion. However, in all cases, the locoregional complications of macroglossia are generally the same relative to the magnitude of the enlargement. Mechanical obstruction in the oral cavity can directly occlude the airway. This occlusion is usually worsened by lying supine when an enlarged tongue base is more directly acted upon by gravity to block the oropharynx and hypopharynx. Depending on muscle mass and tone, speech and swallowing may be affected as well.

Several studies document the role of the tongue in shaping the oral cavity. Just as reduced pressure of the tongue on the palate and mandible may lead to an adenoid facies, increased pressure on the surrounding anatomy can have opposite effects. Upper incisors can be pushed horizontally, inducing forward maxillary growth. Other morphologic changes include open bite deformities, prognathism, class III malocclusion, anterior and/or posterior crossbites, buccal tipping of posterior teeth, accentuated curve of Spee in the maxillary arch, reverse curve of Spee in the mandibular arch, increased transverse width of mandibular and/or maxillary arches. Furthermore, difficulty with mastication may lead to temporomandibular joint pain.

If the tongue protrudes beyond the lips and is exposed to the air, drying of the tongue with resultant glossitis and bleeding is common. Prior to the 1900s, this was not an uncommon occurrence for patients.

Presentation

When obtaining the history of a patient with macroglossia, first direct questions toward determining whether an emergency situation exists. General presentation provides clear indication in most situations, but adequate assessment of the patient's ability to breathe, swallow, and speak should be obtained quickly.

If no emergent intervention is required, focus the history on possible causes for macroglossia because this determines appropriate treatment.

Congenital syndromes are often known prior to the presentation of macroglossia (eg, Down syndrome). Family history is crucial in discerning possible congenital causes. These syndromes are not always easy for the otolaryngologist or primary care physician to diagnose; therefore, consult a geneticist or other such specialist if warranted.

Should the cause be unknown to the patient and not obvious on initial presentation, further investigation is indicated. To simplify the process of narrowing the enormous list of differential diagnoses, direct questions toward the etiology class (eg, inflammatory versus neoplastic). Once the class is determined, specific causes are more easily discovered.

The physical examination can significantly aid diagnosis. Again, because of the nature of this entity, assess the airway. Typically, an astute clinician does this during the initial history gathering. Take note of signs related to potential airway compromise such as stridor, turgor, drooling, and poor or muffled speech.

Physical examination of the tongue alone should reveal signs of the cause or at least help rule out the classes that are not involved. For example, hemangiomas can often be observed on the surface of the tongue in a variety of positions. But, physical examination should always include palpation of the tongue to help diagnose discreet masses not prominent on the lingual surface. Infectious processes often present with characteristic findings, such as the white plaques pathognomonic for candidiasis. A lack of any unusual masses, discolorations, or other obvious lesions may lead the physician to consider amyloidosis or other more cryptic etiologies.

Physical examination of the oral cavity and head morphology is helpful to deduce true macroglossia from pseudomacroglossia. Severe retrognathia and unusually small maxillary and/or mandibular size may indicate the latter. In addition, note tongue tone and mobility to rule out simple atonia or hypotonia indicating poor posturing of the tongue (as is commonly observed in Down syndrome).

In addition to the oral cavity and airway, assess other features in the patient that may indicate congenital or systemic syndromes. Certain vitamin deficiencies may manifest with angular stomatitis, nonpitting edema of the lower extremities may indicate hypothyroidism, and unusual body morphologies may indicate the early signs of diseases like acromegaly.

The physical findings listed in Pathophysiology may be noted during oromaxillofacial examination.

Because of the large range of possible causes, take a broad history and perform a complete physical examination of the patient with macroglossia. Failure to do so may result in missing a diagnosis that may otherwise have been made.

Indications

Indications for surgical intervention are varied. The most important is airway compromise. A tracheostomy may be required as a first step in surgical care (in some cases an elective tracheostomy is performed prior to surgical correction). Other indications include dysarthria, dysphagia, and cosmesis.

The goal of nearly all surgery is to return the patient to an anatomically and physiologically normal condition; the same is also true in surgery for macroglossia. The goal is to reduce tongue size and thereby improve function. Those main functions include articulation, mastication, deglutition, protection of the airway, and gustation. Of these, only gustation is not often improved with surgical intervention.

Relevant Anatomy

The lingual anatomy is relatively simple, although its complex 3-dimensional location makes it more interesting.

Four intrinsic and 4 extrinsic muscles control the motion of the tongue.

• Extrinsic muscles (named by their attachments, with their function and innervation)
  • Genioglossus - Protrusion of tongue apex from the mouth and depression of the tongue center allowing it to take a concave form, hypoglossal nerve
  • Hyoglossus - Depression of the tongue, hypoglossal nerve
  • Chondroglossus (often considered a portion of the hyoglossus) - Depression of the tongue (identified as separate entity based on embryologic origin), hypoglossal nerve
  • Styloglossus - Elevates and retracts the tongue, hypoglossal nerve
  • Palatoglossus - Elevates and retracts the tongue, vagus nerve
• Intrinsic muscles of the tongue (with their function, all are innervated by the hypoglossal nerve)
  • Superior longitudinal muscle - Shortens tongue, turns apex and sides upwards to create a concave dorsum
  • Inferior longitudinal muscle - Shortens tongue, turns apex and sides downwards to create a convex dorsum
  • Transverse muscle - Narrows and elongates the tongue
  • Vertical muscle - Flattens and widens the tongue

The main artery of the tongue is the lingual branch of the external carotid. However, contributing arteries include the tonsillar branch of the facial artery and the ascending palatine branch of the ascending pharyngeal artery. An extensive submucosal plexus is responsible for the vigorous bleeding with even superficial wounds.

• Sensory nerves (with their target innervation)
  • Lingual branch of V2 of CN V - General sensation for the anterior two thirds of the tongue
  • Chorda tympani of CN VII - Taste for the anterior two thirds of the tongue
  • Lingual branch of CN IX - General sensation and taste for the posterior one third
  • Superior laryngeal branch of CN X - Root of tongue at lingual base of epiglottis

A relatively avascular median fibrous septum creates a partition along the length of nearly the entire tongue. It anchors to the hyoid bone. Clinically it can serve as a site for placement of an anchor stitch when significant traction of the tongue is required in the operating room.

Multiple minor salivary glands are present in the tongue and consist of all 3 types, mucous, serous, and mixed.

The foramen caecum can be viewed in the midline of the tongue just posterior to the vallate papillae. It marks the origin of the thyroid gland in the embryo. Persistent thyroid tissue may be present in this location, or it may remain as the end orifice for a thyroglossal duct cyst.

Contraindications

As with all intervention, whether medical or surgical, the benefits of the operation must outweigh the risks. Relative contraindications are those associated with most surgeries and include coagulopathies and other comorbidities that make general anesthesia more dangerous. In the pediatric population, many cases of macroglossia are associated with syndromes that may have lesions that increase the risk of general anesthesia.

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