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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2023
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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. |
format | Online Article Text |
id | pubmed-10474806 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The African Field Epidemiology Network |
record_format | MEDLINE/PubMed |
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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