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Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report

Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). O...

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Autores principales: Hlaing, Su Su, Field, Adeola Yvonne, Mowatt, Lizette Lillene, Yee, Hsu Lei, Noguera, Cynthia Marie, Palmer, Gordon Leon, Mattis, Angela Christine, Nelson, Christine Carol, Fleming, James Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474806/
https://www.ncbi.nlm.nih.gov/pubmed/37663630
http://dx.doi.org/10.11604/pamj.2023.45.88.38964
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author Hlaing, Su Su
Field, Adeola Yvonne
Mowatt, Lizette Lillene
Yee, Hsu Lei
Noguera, Cynthia Marie
Palmer, Gordon Leon
Mattis, Angela Christine
Nelson, Christine Carol
Fleming, James Christian
author_facet Hlaing, Su Su
Field, Adeola Yvonne
Mowatt, Lizette Lillene
Yee, Hsu Lei
Noguera, Cynthia Marie
Palmer, Gordon Leon
Mattis, Angela Christine
Nelson, Christine Carol
Fleming, James Christian
author_sort Hlaing, Su Su
collection PubMed
description Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.
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spelling pubmed-104748062023-09-03 Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report Hlaing, Su Su Field, Adeola Yvonne Mowatt, Lizette Lillene Yee, Hsu Lei Noguera, Cynthia Marie Palmer, Gordon Leon Mattis, Angela Christine Nelson, Christine Carol Fleming, James Christian Pan Afr Med J Case Report Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention. The African Field Epidemiology Network 2023-06-20 /pmc/articles/PMC10474806/ /pubmed/37663630 http://dx.doi.org/10.11604/pamj.2023.45.88.38964 Text en Copyright: Su Su Hlaing et al. https://creativecommons.org/licenses/by/4.0/The Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hlaing, Su Su
Field, Adeola Yvonne
Mowatt, Lizette Lillene
Yee, Hsu Lei
Noguera, Cynthia Marie
Palmer, Gordon Leon
Mattis, Angela Christine
Nelson, Christine Carol
Fleming, James Christian
Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report
title Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report
title_full Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report
title_fullStr Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report
title_full_unstemmed Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report
title_short Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report
title_sort pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474806/
https://www.ncbi.nlm.nih.gov/pubmed/37663630
http://dx.doi.org/10.11604/pamj.2023.45.88.38964
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