Macroglossia: Difference between revisions

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{{Short description|Enlargement of the tongue}}
{{Infobox medical condition (new)   
{{Infobox medical condition (new)   
| name            = Macroglossia   
| name            = Macroglossia   
| image          = Macroglossia with crenations along the margins and loss of papillae on dorsum surface of the tongue.png   
| image          = Macroglossia with crenations along the margins and loss of papillae on dorsum surface of the tongue.png   
|   
| alt            = Enlarged tongue with scalloped edges and smooth top surface  
| synonyms        = 
| caption        = Macroglossia with crenations along the margins and loss of papillae on dorsum surface of the tongue
| caption        = Macroglossia with crenations along the margins and loss of papillae on dorsum surface of the tongue.
| synonyms        = Enlarged tongue, big tongue  
|   
| pronounce      =  
| pronounce      =  
| field          = [[Otolaryngology]], [[Dentistry]], [[Pediatrics]], [[Medical genetics]] 
| field          =  
| symptoms        = Enlarged tongue, difficulty speaking, chewing, swallowing, drooling, airway obstruction 
| symptoms        =  
| complications  = Speech difficulties, malocclusion, obstructive sleep apnea, feeding problems 
| complications  =  
| onset          = Congenital or acquired 
| onset          =  
| duration        = Chronic 
| duration        =  
| types          = True macroglossia, relative macroglossia 
| types          =  
| causes          = [[Congenital hypothyroidism]], [[Down syndrome]], [[Beckwith-Wiedemann syndrome]], [[amyloidosis]], [[acromegaly]], tumors 
| causes          =  
| risks          = Genetic syndromes, metabolic disorders 
| risks          =  
| diagnosis      = Clinical examination, imaging, biopsy (if tumor suspected) 
| diagnosis      =  
| differential    = [[Lingual tumors]], [[lymphangioma]], [[hemangioma]], [[muscle hypertrophy]] 
| differential    =  
| prevention      = Depends on underlying cause; genetic counseling may be helpful 
| prevention      =  
| treatment      = Treat underlying condition, speech therapy, surgical reduction (glossectomy) in severe cases 
| treatment      =  
| medication      = Based on underlying cause (e.g., hormone therapy for hypothyroidism) 
| medication      =  
| prognosis      = Good with appropriate treatment, varies based on cause and severity 
| prognosis      =  
| frequency      = Rare 
| frequency      =  
| deaths          = Rare; can occur if airway is severely obstructed 
| deaths          =  
}}
|alt=}}


== Macroglossia: The Condition of an Enlarged Tongue ==
'''Macroglossia''' is a medical condition characterized by an abnormally large [[tongue]]. This condition can cause difficulties with [[speech]], [[mastication]], and [[swallowing]], and may lead to [[obstructive sleep apnea]].


'''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.
==Causes==
 
Macroglossia can be caused by a variety of factors, including congenital, acquired, and idiopathic origins.  
[[File:Macroglossia with crenations along the margins and loss of papillae on dorsum surface of the tongue.png|thumb|right|A child exhibiting the signs of macroglossia.]]


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== Overview ==
===Congenital Causes===
 
* [[Beckwith-Wiedemann syndrome]]: A genetic disorder that often results in overgrowth and an increased risk of childhood cancer.
An enlarged tongue can significantly impact daily life, manifesting challenges in:
* [[Down syndrome]]: A genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
 
* [[Congenital hypothyroidism]]: A condition present at birth that results in a deficiency of thyroid hormones.
* '''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 ==
===Acquired Causes===
* [[Amyloidosis]]: A condition where an abnormal protein, amyloid, builds up in organs and tissues.
* [[Acromegaly]]: A disorder caused by excess growth hormone, leading to enlarged body parts.
* [[Hypothyroidism]]: A condition where the thyroid gland does not produce enough thyroid hormone.


If left untreated, macroglossia can result in:
===Idiopathic===
In some cases, the cause of macroglossia is unknown, and it is referred to as idiopathic macroglossia.


* Chronic dental issues due to consistent pressure on the teeth.
==Symptoms==
* Persistent speech difficulties.
The primary symptom of macroglossia is an enlarged tongue. This can lead to:
* Breathing problems, especially during sleep.
* Difficulty in [[speech]] articulation
 
* Problems with [[mastication]] and [[swallowing]]
Early intervention and treatment can lead to better outcomes and minimize complications.
* [[Obstructive sleep apnea]]
 
* [[Drooling]]
==Signs and symptoms==
* [[Malocclusion]] or misalignment of teeth
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">{{cite journal|last=Perkins|first=JA|title=Overview of macroglossia and its treatment.|journal=Current Opinion in Otolaryngology & Head and Neck Surgery|date=December 2009|volume=17|issue=6|pages=460–5|pmid=19713845|doi=10.1097/moo.0b013e3283317f89}}</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 [[lisp]]ing<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 (dentistry)|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 disorder|congenital]] and [[acquired disorder|acquired conditions]]. Isolated macroglossia has no determinable cause.<ref name="Prada 2011" /> The most common causes of tongue enlargement are [[vascular malformation]]s (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">{{cite journal|last=Dios|first=Pedro Diz|author2=Posse, Jacobo Limeres |author3=Sanromán, Jacinto Fernández |author4= García, Emma Vázquez |title=Treatment of macroglossia in a child with Beckwith–Wiedemann syndrome|journal=Journal of Oral and Maxillofacial Surgery|date=September 2000|volume=58|issue=9|pages=1058–61|pmid=10981990|doi=10.1053/joms.2000.8753}}</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">{{cite journal |vauthors=Guimaraes CV, Donnelly LF, Shott SR, Amin RS, Kalra M |title=Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea |journal=Pediatr Radiol |volume=38 |issue=10 |pages=1062–7 |date=October 2008 |pmid=18685841 |doi=10.1007/s00247-008-0941-7}}</ref> The tongue has a papillary, [[fissured tongue|fissured]] surface.<ref name="OMF pathology textbook" /> Macroglossia may be a sign of [[hypothyroidism|hypothyroid disorders]].
 
Other causes include [[mucopolysaccharidosis]],<ref>{{Cite web | url=http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypei |title = Mucopolysaccharidosis type I}}</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>{{Cite web | url=https://www.ncbi.nlm.nih.gov/omim/?term=312870 |title = Omim - Simpson-Golabi-Behmel Syndrome, Type 1; Sgbs1 - Omim - Ncbi}}</ref> [[Triploid Syndrome]],{{medical citation needed|date=February 2013}} [[trisomy 4p]],{{medical citation needed|date=February 2013}} [[fucosidosis]],{{medical citation needed|date=February 2013}} [[alpha-mannosidosis]],<ref>{{Cite web | url=https://www.ncbi.nlm.nih.gov/omim/?term=248500 |title = Omim - Mannosidosis, Alpha B, Lysosomal; Mansa - Omim - Ncbi}}</ref> [[Klippel-Trenaunay-Weber syndrome]],<ref name="Prada 2011" /> [[cardiofaciocutaneous syndrome]],<ref name="Prada 2011" /> [[Ras subfamily|Ras pathway]] disorders,<ref name="Prada 2011" /> [[Transient neonatal diabetes mellitus|transient neonatal diabetes]],<ref name="Prada 2011" /> and [[lingual thyroid]].<ref name="Cawson textbook">{{cite book|last=Cawson|first=R. A.|title=Cawson's essentials of oral pathology and oral medicine|year=2002|publisher=Churchill Livingstone|location=Edinburgh|isbn=0443071055|edition=7th|author2=Odell, E. W.|page=219}}</ref>


==Diagnosis==
==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" />
Diagnosis of macroglossia typically involves a physical examination and a review of the patient's medical history. Imaging studies such as [[MRI]] or [[CT scan]] may be used to assess the extent of tongue enlargement and to identify any underlying causes.
===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 <nowiki>[the]</nowiki> 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">{{cite journal|last=Vogel|first=JE|author2=Mulliken, JB |author3=Kaban, LB |title=Macroglossia: a review of the condition and a new classification.|journal=Plastic and Reconstructive Surgery|date=December 1986|volume=78|issue=6|pages=715–23|pmid=2947254|doi=10.1097/00006534-198678060-00001}}</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">{{cite journal|last=Topouzelis|first=N|author2=Iliopoulos, C |author3=Kolokitha, OE |title=Macroglossia.|journal=International Dental Journal|date=April 2011|volume=61|issue=2|pages=63–9|pmid=21554274|doi=10.1111/j.1875-595x.2011.00015.x}}</ref> The Myer classification subdivides macroglossia into generalized or localized.<ref name="Prada 2011">{{cite journal|last=Prada|first=CE|author2=Zarate, YA |author3=Hopkin, RJ |title=Genetic causes of macroglossia: diagnostic approach.|journal=Pediatrics|date=February 2012|volume=129|issue=2|pages=e431-7|pmid=22250026|doi=10.1542/peds.2011-1732}}</ref>


==Treatment ==
==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" />
Treatment for macroglossia depends on the underlying cause and the severity of the condition. Options may include:
* [[Speech therapy]] to improve articulation
* [[Orthodontic treatment]] to address dental issues
* [[Surgical reduction]] of the tongue in severe cases
* Treatment of underlying conditions such as [[hypothyroidism]] or [[amyloidosis]]


==Epidemiology==
==Prognosis==
Macroglossia is uncommon, and usually occurs in children.<ref name="OMF pathology textbook">{{cite book |author=Douglas D. Damm |author2=Jerry E. Bouquot |author3=Brad W. Neville |author4=Carl M. Allen|title=Oral & maxillofacial pathology|year=2002|publisher=W.B. Saunders|location=Philadelphia|isbn=0721690033|pages=9–10|edition=2nd}}</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" />
The prognosis for individuals with macroglossia varies depending on the cause and severity of the condition. Early diagnosis and treatment can improve outcomes and quality of life.
 
==References==
{{Reflist}}
 
== External links ==
{{Medical resources
| DiseasesDB      = 7689
| ICD10          = {{ICD10|Q|38|2|q|38}} (congenital){{ICD10|K|14|8|K|14}} (acquired)
| ICD9            = {{ICD9|529.8}}, {{ICD9|750.15}}
| ICDO            =
| OMIM            = 153630
| MedlinePlus    = 002250
| eMedicineSubj  = ent
| eMedicineTopic  = 746
| MeshID          = D008260
| 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.
* [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253294/ National Institutes of Health: Macroglossia: A Review]


==Related pages==
* [[Beckwith-Wiedemann syndrome]]
* [[Down syndrome]]
* [[Amyloidosis]]
* [[Acromegaly]]
* [[Hypothyroidism]]
[[Category: Medical Conditions]]
[[Category: Medical Conditions]]
[[Category: Oral Health]]
[[Category: Oral Health]]
[[Category: Pediatric Disorders]]
[[Category: Pediatric Disorders]]
{{Congenital malformations and deformations of digestive system}}
{{Congenital malformations and deformations of digestive system}}
[[Category:Tongue disorders]]
[[Category:Tongue disorders]]
[[Category:Congenital disorders of digestive system]]
[[Category:Congenital disorders of digestive system]]
{{stub}}
[[Category:Oral and maxillofacial surgery]]
[[Category:Congenital disorders]]

Latest revision as of 03:01, 23 March 2025

Enlargement of the tongue


Macroglossia
Enlarged tongue with scalloped edges and smooth top surface
Synonyms Enlarged tongue, big tongue
Pronounce
Field Otolaryngology, Dentistry, Pediatrics, Medical genetics
Symptoms Enlarged tongue, difficulty speaking, chewing, swallowing, drooling, airway obstruction
Complications Speech difficulties, malocclusion, obstructive sleep apnea, feeding problems
Onset Congenital or acquired
Duration Chronic
Types True macroglossia, relative macroglossia
Causes Congenital hypothyroidism, Down syndrome, Beckwith-Wiedemann syndrome, amyloidosis, acromegaly, tumors
Risks Genetic syndromes, metabolic disorders
Diagnosis Clinical examination, imaging, biopsy (if tumor suspected)
Differential diagnosis Lingual tumors, lymphangioma, hemangioma, muscle hypertrophy
Prevention Depends on underlying cause; genetic counseling may be helpful
Treatment Treat underlying condition, speech therapy, surgical reduction (glossectomy) in severe cases
Medication Based on underlying cause (e.g., hormone therapy for hypothyroidism)
Prognosis Good with appropriate treatment, varies based on cause and severity
Frequency Rare
Deaths Rare; can occur if airway is severely obstructed


Macroglossia is a medical condition characterized by an abnormally large tongue. This condition can cause difficulties with speech, mastication, and swallowing, and may lead to obstructive sleep apnea.

Causes[edit]

Macroglossia can be caused by a variety of factors, including congenital, acquired, and idiopathic origins.

Congenital Causes[edit]

  • Beckwith-Wiedemann syndrome: A genetic disorder that often results in overgrowth and an increased risk of childhood cancer.
  • Down syndrome: A genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
  • Congenital hypothyroidism: A condition present at birth that results in a deficiency of thyroid hormones.

Acquired Causes[edit]

  • Amyloidosis: A condition where an abnormal protein, amyloid, builds up in organs and tissues.
  • Acromegaly: A disorder caused by excess growth hormone, leading to enlarged body parts.
  • Hypothyroidism: A condition where the thyroid gland does not produce enough thyroid hormone.

Idiopathic[edit]

In some cases, the cause of macroglossia is unknown, and it is referred to as idiopathic macroglossia.

Symptoms[edit]

The primary symptom of macroglossia is an enlarged tongue. This can lead to:

Diagnosis[edit]

Diagnosis of macroglossia typically involves a physical examination and a review of the patient's medical history. Imaging studies such as MRI or CT scan may be used to assess the extent of tongue enlargement and to identify any underlying causes.

Treatment[edit]

Treatment for macroglossia depends on the underlying cause and the severity of the condition. Options may include:

Prognosis[edit]

The prognosis for individuals with macroglossia varies depending on the cause and severity of the condition. Early diagnosis and treatment can improve outcomes and quality of life.

Related pages[edit]

Congenital malformations and deformations of digestive system
Upper GI tract
Lower GI tract
Accessory
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