Deformed epidermal autoregulatory factor 1(DEAF 1) mutation-associated Macroglossia: A rare case report

Macroglossia, or an abnormally large tongue, can appear in either a relative or a true form, and it is frequently linked to a specific syndrome. Enlargement may occur due to vascular malformations or stem from the expansion of muscles. Congenital macroglossia (present from birth) is rare, reported in fewer than 5 in every 100,000 live births. The condition associated with Down's syndrome is typically relative macroglossia, while true macroglossia is most commonly seen in individuals with Beckwith-Wiedemann syndrome. The recommended treatment for true macroglossia is a partial glossectomy to help secure the airway and prevent malocclusions. Herein, we describe the treatment of a patient presenting with the rare association of a pathogenic, de novo DEAF1 variant and macroglossia. Diagnosis was confirmed via whole-exome sequencing, and imaging and histopathology suggested underlying muscular hypertrophy. The patient underwent partial glossectomy using the keyhole technique. Postoperative follow-up was uneventful for eighteen months, with objective measurements confirming sustained reduction in tongue size and functional improvement. To our knowledge, this is the first reported association between a DEAF1 mutation and congenital macroglossia. • First reported case of macroglossia associated with DEAF 1 mutation. • Successful surgical management performed with partial glossectomy. • Findings emphasize the role of genetic testing in pediatric macroglossia. • Case contributes to the literature on syndromic macroglossia diagnosis and treatment.