A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound heterozygous variants in SLCO2A1. Recent studies have...

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Detalles Bibliográficos
Autores principales: Nakano, Yukako, Ohata, Yasuhisa, Fujiwara, Makoto, Kubota, Takuo, Miyoshi, Yoko, Ozono, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10036882/
https://www.ncbi.nlm.nih.gov/pubmed/36968251
http://dx.doi.org/10.1016/j.bonr.2023.101673
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author Nakano, Yukako
Ohata, Yasuhisa
Fujiwara, Makoto
Kubota, Takuo
Miyoshi, Yoko
Ozono, Keiichi
author_facet Nakano, Yukako
Ohata, Yasuhisa
Fujiwara, Makoto
Kubota, Takuo
Miyoshi, Yoko
Ozono, Keiichi
author_sort Nakano, Yukako
collection PubMed
description Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound heterozygous variants in SLCO2A1. Recent studies have reported various clinical manifestations, as well as skeletal and dermal features, in patients with PDP. Genetic testing provided not only PDP diagnosis and differentiation from acromegaly, but also information about possible complications and comorbidities throughout life.
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spelling pubmed-100368822023-03-25 A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly Nakano, Yukako Ohata, Yasuhisa Fujiwara, Makoto Kubota, Takuo Miyoshi, Yoko Ozono, Keiichi Bone Rep Case Report Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound heterozygous variants in SLCO2A1. Recent studies have reported various clinical manifestations, as well as skeletal and dermal features, in patients with PDP. Genetic testing provided not only PDP diagnosis and differentiation from acromegaly, but also information about possible complications and comorbidities throughout life. Elsevier 2023-03-16 /pmc/articles/PMC10036882/ /pubmed/36968251 http://dx.doi.org/10.1016/j.bonr.2023.101673 Text en © 2023 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Nakano, Yukako
Ohata, Yasuhisa
Fujiwara, Makoto
Kubota, Takuo
Miyoshi, Yoko
Ozono, Keiichi
A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly
title A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly
title_full A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly
title_fullStr A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly
title_full_unstemmed A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly
title_short A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly
title_sort patient with pachydermoperiostosis harboring slco2a1 variants with a history of differentiating from acromegaly
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10036882/
https://www.ncbi.nlm.nih.gov/pubmed/36968251
http://dx.doi.org/10.1016/j.bonr.2023.101673
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