| Autor: |
Yukako Nakano, Yasuhisa Ohata, Makoto Fujiwara, Takuo Kubota, Yoko Miyoshi, Keiichi Ozono |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Bone Reports, Vol 18, Iss , Pp 101673- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2352-1872 |
| DOI: |
10.1016/j.bonr.2023.101673 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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