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Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm
E Dietrich1, X Grimaux1, L Martin1
1Dermatology Department, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, 49000 Angers, France.
Annales De Dermatologie Et De Venereologie
|October 13, 2022
Summary
This review identifies macroglossia causes, classifying them as congenital or acquired. Beckwith-Wiedemann syndrome is the main congenital cause, while amyloidosis is most common in acquired cases.
Area of Science:
- Medicine
- Genetics
- Pathology
Background:
- Macroglossia, or tongue enlargement, presents diverse etiologies requiring systematic diagnosis.
- Understanding these causes is crucial for effective clinical management and patient outcomes.
Approach:
- A comprehensive literature review was conducted using PubMed, searching for "macroglossia" and "tongue enlargement" from October 2019 to July 2020.
- Identified etiologies were classified by mechanism and whether they were congenital or acquired.
Key Points:
- Etiologies encompass genetic syndromes, congenital malformations, endocrinopathies, neuromuscular diseases, storage disorders, infections, inflammation, trauma, and iatrogenic causes.
- Acquired macroglossia commonly results from amyloidosis, endocrinopathies, myopathies, and tongue tumors.
- Congenital macroglossia is frequently associated with aneuploidy, lymphatic malformations, and Beckwith-Wiedemann syndrome.
Conclusions:
- A diagnostic algorithm for macroglossia is proposed based on the reviewed characteristics.
- Accurate diagnosis aids in targeted treatment strategies for various macroglossia presentations.
