AUTHOR=Spencer C. , Makka A. , Singh S. , McGuire J. , Washaya N. , Hein G. , Zampoli M. , Fieggen K. TITLE=Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis JOURNAL=Frontiers in Oral Health VOLUME=4 YEAR=2023 URL=https://www.frontiersin.org/journals/oral-health/articles/10.3389/froh.2023.1188443 DOI=10.3389/froh.2023.1188443 ISSN=2673-4842 ABSTRACT=
Pycnodysostosis is a skeletal dysplasia characterized by short stature, generalized osteosclerosis, acro-osteolysis, and recognizable facial features. Oral manifestations are commonly described and include a high-arched palate with dental crowding and malocclusion, hypoplastic enamel, and retained deciduous teeth with impacted permanent teeth, and there is an increased risk of developing osteomyelitis of the jaw. We report here the history of a 9-year-old male with the typical facial and skeletal phenotype of pycnodysostosis but novel oral features. He presented with bilateral progressive facial swelling, which caused functional impairment with chewing and contributed to his severe obstructive sleep apnea (OSA). The severity of his OSA required surgical intervention, and the lesions were resected. Extensive bone remodeling and replacement by fibrous tissue were noted on submucosal dissection, and bilateral subtotal maxillectomies were required. The histopathology of the biopsied lesion was consistent with a giant cell-rich lesion. Genetic testing identified a pathogenic homozygous variant in the