Macroglossia: etiologic considerations and management techniques

The Beckwith-Wiedemann syndrome phenotype and the risk of cancer

“…Macroglossia, the major symptom of BWS [22], was present in 92.1% of our patients (35/38) ( Table II). The enlarged tongue in some cases needed to be reduced because of effects on nutrition and for esthetic reasons.…”

Macroglossia

“…Common causes of true macroglossia in children include hypothyroidism, lymphangioma, haemangioma, idiopathic hyperplasia, metabolic disorders, and chromosomal abnormalities including the Beckwith-Wiedemann syndrome 2. Amyloidosis is the commonest cause of macroglossia in adults, the tongue being involved in both its primary and secondary forms 3. Secondary macroglossia may also be a manifestation of both benign and malignant space occupying lesions, such as cystic hygroma, cysts in the lingual thyroglossal duct, dermoid cysts, neurofibromatosis, granular cell tumours, and rhabdomyosarcoma 2.…”

Non-Down's syndrome macroglossia

“…It is defined as a resting tongue that protrudes beyond the teeth or alveolar ridge. The etiology of non-Down's syndrome macroglossia include hypothyroidism, acromegaly, BWS, lymphangiomatosis, amyloidosis, and a variety of minor and sporadic syndromes as described in our series; including glycogen storage diseases, body hemihypertrophy and idiopathic tongue enlargement [1,5,[11][12][13][14]171 Since macroglossia is primarily a condition that requires treatment on a symptomatic basis, definition of the problem in clinical terms is the most useful form for the practitioner.…”

“…By far, the commonest cause of a large tongue seen in association with impairment of intellect is Trisomy 21 or Down's syndrome; other macroglossia related syndromes with mental retardation, although extremely rare, have been well described [1,5,[11][12][13].…”