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Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis

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 d...

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Autores principales: Spencer, C., Makka, A., Singh, S., McGuire, J., Washaya, N., Hein, G., Zampoli, M., Fieggen, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242096/
https://www.ncbi.nlm.nih.gov/pubmed/37288425
http://dx.doi.org/10.3389/froh.2023.1188443
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author Spencer, C.
Makka, A.
Singh, S.
McGuire, J.
Washaya, N.
Hein, G.
Zampoli, M.
Fieggen, K.
author_facet Spencer, C.
Makka, A.
Singh, S.
McGuire, J.
Washaya, N.
Hein, G.
Zampoli, M.
Fieggen, K.
author_sort Spencer, C.
collection PubMed
description 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 CTSK gene, c.953G > A, p. (Cys318Tyr). The proband had a good postsurgical response with sustained improvement in his sleep OSA. We present here the history and clinical characteristics of a patient with typical features of pycnodysostosis and an unusual presentation and histopathology of gnathic bone lesions. This report adds to the body of literature on this rare condition and also highlights the finding of giant cell-rich lesions of the gnathic bones. Giant cell-rich lesions in pycnodysostosis have previously been reported in two cases in the literature. While there is not enough evidence to support a certain association with pycnodysostosis, it is prudent to consider regular oral dental reviews in affected individuals to identify pathology early and avoid such life-threatening complications.
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spelling pubmed-102420962023-06-07 Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis Spencer, C. Makka, A. Singh, S. McGuire, J. Washaya, N. Hein, G. Zampoli, M. Fieggen, K. Front Oral Health Oral Health 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 CTSK gene, c.953G > A, p. (Cys318Tyr). The proband had a good postsurgical response with sustained improvement in his sleep OSA. We present here the history and clinical characteristics of a patient with typical features of pycnodysostosis and an unusual presentation and histopathology of gnathic bone lesions. This report adds to the body of literature on this rare condition and also highlights the finding of giant cell-rich lesions of the gnathic bones. Giant cell-rich lesions in pycnodysostosis have previously been reported in two cases in the literature. While there is not enough evidence to support a certain association with pycnodysostosis, it is prudent to consider regular oral dental reviews in affected individuals to identify pathology early and avoid such life-threatening complications. Frontiers Media S.A. 2023-05-23 /pmc/articles/PMC10242096/ /pubmed/37288425 http://dx.doi.org/10.3389/froh.2023.1188443 Text en © 2023 Spencer, Makka, Singh, McGuire, Washaya, Hein, Zampoli and Fieggen. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oral Health
Spencer, C.
Makka, A.
Singh, S.
McGuire, J.
Washaya, N.
Hein, G.
Zampoli, M.
Fieggen, K.
Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis
title Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis
title_full Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis
title_fullStr Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis
title_full_unstemmed Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis
title_short Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis
title_sort case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis
topic Oral Health
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242096/
https://www.ncbi.nlm.nih.gov/pubmed/37288425
http://dx.doi.org/10.3389/froh.2023.1188443
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