Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.

BACKGROUND: The objective of this literature review was to list the different etiologies of macroglossia reported in the literature, to identify characteristics that might guide diagnosis, and to create a diagnostic algorithm. METHODS: The bibliographic search was carried out between October 2019 and July 2020 in the PubMed research base using the keywords "macroglossia" (MESH) and/or "tongue enlargement". RESULTS: Of the 1711 references identified, 615 articles were excluded, and 1096 abstracts were reviewed. We classified the different etiologies identified according to their mechanism and whether they were congenital or acquired. The etiologies are divided into the following categories: genetic malformation syndromes, non-syndromic congenital malformations, endocrinopathies, neuromuscular diseases, storage disorders, infectious, inflammatory, traumatic, and iatrogenic diseases. CONCLUSION: Based on this review, we propose a diagnostic algorithm for macroglossia according to the characteristics described. The most common diagnoses among acquired causes were amyloidosis (13.7%), endocrinopathies (8.8%), myopathies (4%) and tongue tumors (6.7%). The most common congenital causes were aneuploidy, lymphatic malformations, and Beckwith-Wiedemann syndrome, which is the main cause of congenital macroglossia, even if it appears isolated.

Decision making for position-dependent obstructive sleep apnea syndrome on the basis of patient information and physical examinations of the upper airway, acquired on an outpatient basis.

CONCLUSIONS: Patients with body mass index (BMI) < 25 kg/m2 and obstructive sleep apnea syndrome (OSAS) are highly suspicious for position-dependent OSAS. Diagnosis of position-dependent/position-independent OSAS can be difficult in patients satisfying both 'BMI >25 kg/m2' and 'any of tongue enlargement (TE), palatine tonsil hypertrophy (PTH) and obstruction by Muller's maneuver (OMM)'. Polysomnography is warranted in such patients. OBJECTIVES: The objective was to retrospectively elucidate criteria for differentiating position-dependent OSAS on the basis of patient information and physical examinations of the upper airway obtainable in clinics. METHODS: The 643 patients were categorized as positional patients (PPs) or non-positional patients (NPPs). The patient background factors examined were sex, age, BMI, and hypertension. TE, PTH, pharyngeal tonsil hypertrophy, and OMM were evaluated. Cross-validation was performed using even-numbered registrations as the training set group (Group A) and odd-numbered registrations as the test case group (Group B). RESULTS: In Group A, patients with BMI <25 kg/m2 were clearly more frequent among PP than among NPP. In Group A with BMI ≥25 kg/m2, significant differences were found for TE, PTH and OMM. Significant differences were found between 0 and 1/2/3 for number of factors. Results generated from Group A were validated in Group B.