Makindo Medical Notes

Related Subjects: |Macroglossia |Microstomia |Glossitis |Medical Teeth |Gum hypertrophy |Angular Stomatitis - Cheilitis |Oral Aphthous Ulcers |Oral Leukoplakia

About

• Macroglossia is a condition characterized by an abnormally large tongue that can lead to difficulties with breathing, feeding, or speech.
• It can present as an acute emergency, particularly if it causes airway obstruction.

Aetiology

• Congenital Causes: Conditions present at birth that may include genetic syndromes.
• Infiltrative Causes: Conditions involving tissue infiltration or other systemic diseases.

Causes

• Congenital: Seen in genetic conditions such as Beckwith-Wiedemann syndrome and Freeman-Sheldon syndrome (also known as “whistling face syndrome”), which include macroglossia as a characteristic feature.
• Systemic Diseases: Systemic sclerosis or CREST syndrome can cause fibrotic changes leading to reduced mouth opening.
• Trauma and Burns: Direct, electrical, or chemical burns around the mouth can lead to scarring and contraction, resulting in macroglossia.
• Epidermolysis Bullosa: This rare genetic condition causes fragile skin and mucous membranes that can scar easily, leading to macroglossia.
• Other Rare Associations: Occasionally seen with Down’s syndrome and certain vascular anomalies, though not commonly as a primary feature.

Clinical Features

• Enlarged Tongue: The tongue is noticeably larger than normal, which may protrude beyond the mouth boundaries.
• Speech Impairment: Difficulty articulating words due to the increased tongue size interfering with normal speech patterns.
• Breathing Difficulties: Especially in infants and young children, macroglossia can obstruct the airway, leading to respiratory distress.
• Feeding Challenges: Infants may experience difficulty latching during breastfeeding or bottle feeding.
• Facial Asymmetry: Enlarged tongue can cause asymmetrical facial features over time.
• Orthodontic Issues: Can lead to malocclusion and other dental alignment problems.
• Airway Obstruction: In acute cases, rapid intervention may be necessary, and a tracheostomy may be required to secure the airway.

Acute Causes

• Haemorrhage into the Tongue: Detected by CT showing blood accumulation. Requires immediate correction of any underlying coagulopathy.
• Angioneurotic Oedema: Often related to ACE inhibitors or allergic reactions. CT shows oedema; requires immediate management for airway protection.

Chronic Causes

• Endocrine and Genetic Conditions: Hypothyroidism, Acromegaly, Down syndrome.
• Systemic Infiltrative Diseases: Amyloidosis, Mucopolysaccharidosis (e.g., Hurler syndrome).

Investigations

• Imaging Studies:
  • CT or MRI scans to assess the extent of tongue enlargement and any associated anatomical changes.
  • Ultrasound for evaluating vascular anomalies.
• Laboratory Tests:
  • Thyroid Function Tests (TFTs) to identify hypothyroidism.
  • Blood glucose levels to rule out diabetes mellitus.
  • Genetic screening for associated syndromes.
• Biopsy:
  • For infiltrative diseases like amyloidosis to confirm diagnosis.

Management

• Conservative Management:
  • Early interventions like oral stretching exercises or assistive devices to maintain mouth opening may be helpful.
  • Physical therapy to improve muscle tone and flexibility.
• Surgical Correction:
  • In more severe cases, surgical intervention may be considered to improve mouth opening. Techniques may include Z-plasty, skin grafting, or partial glossectomy.
  • Tracheostomy in cases of acute airway obstruction.
• Multidisciplinary Support:
  • Collaboration with dental, plastic surgery, and speech therapy teams can help optimize outcomes and function.
  • Psychological support for patients experiencing aesthetic and functional challenges.
• Medical Management:
  • Treat underlying conditions such as hypothyroidism or acromegaly to reduce tongue size.
  • Manage systemic diseases contributing to macroglossia.

Prognosis and Outcomes

• Prognosis depends on the underlying cause and the timeliness of intervention.
• Early diagnosis and treatment can prevent complications such as airway obstruction and improve quality of life.
• Chronic macroglossia may require ongoing management to address functional and aesthetic concerns.

Conclusion

Macroglossia is a significant clinical condition that can affect both functional and aesthetic aspects of oral health. Early diagnosis and intervention are essential to manage the condition effectively and to prevent further complications, such as airway obstruction and difficulties with feeding or speech. A multidisciplinary approach involving dental care, physical therapy, and, when necessary, surgical intervention ensures comprehensive management, thereby improving the patient's quality of life. Understanding the underlying causes, whether congenital, systemic, or due to trauma, is crucial in tailoring appropriate treatment strategies.

References

• Kumar, V., Abbas, A. K., & Aster, J. C. (2020). Robbins and Cotran Pathologic Basis of Disease (10th ed.). Elsevier.
• Fischer, E. (2012). Histology for Pathologists (3rd ed.). Springer.
• Murray, P. R., et al. (2018). Medical Microbiology (8th ed.). Elsevier.
• American Dental Association (ADA). Systemic Health and Oral Health. Available at: https://www.ada.org
• Mayo Clinic. Dental Health and Systemic Diseases. Available at: https://www.mayoclinic.org
• National Institutes of Health (NIH). Oral Health and Systemic Disease. Available at: https://www.nih.gov
• World Health Organization (WHO). Oral Health. Available at: https://www.who.int