Clinical analysis of four cases of pachydermoperiostosis
10.3760/cma.j.cn141217-20240504-00150
- VernacularTitle:厚皮性骨膜病4例临床分析
- Author:
Qianhua LI
1
;
Zhiqing TAO
;
Zehong YANG
;
Lefeng CHEN
;
Xiuning WEI
;
Jinjian LIANG
;
Donghui ZHENG
;
Lie DAI
Author Information
1. 中山大学孙逸仙纪念医院风湿免疫科，广州 510120
- Publication Type:Journal Article
- Keywords:
Pachydermoperiostosis;
Periosteal proliferation;
Clubbing;
Genetic mutation
- From:
Chinese Journal of Rheumatology
2025;29(2):123-127
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical features of pachydermoperiostosis (PDP) and improve its diagnostic level.Methods:A retrospective analysis was conducted on the clinical data of four patients with PDP treated at Sun Yat-sen Memorial Hospital, Sun Yat-sen University from 2015 to 2023, including clinical manifestations, laboratory tests, imaging examinations, and genetic testing results.Results:All four patients were male with an average onset age of 15 years old (ranging from 9 to 18 years old). One patient′s uncle had PDP, and another patient′s parents were consanguineous, though neither parent showed signs of PDP. All four patients exhibited clubbing, skin thickening, and acne; three had frontal bossing and deepened nasolabial folds; two showed scalp sulci changes on head MRI, and all had periosteal thickening of the phalanges visible on X-ray. One patient accompanied with hypokalemic nephropathy, and another had gastric ulcer. One patient underwent whole exome sequencing test which revealed a homozygous mutation, SLCO2A1 gene c.1406C>T, leading to a protein change p.Pro469Leu. Computational tools REVEL, SIFT, and Polyphen2 predicted this variant as deleterious.Conclusion:In addition to skin thickening, frontal bossing, scalp sulci changes, clubbing, and periosteal proliferation, patients with PDP may also present with hypokalemic nephropathy and gastric ulcer. The SLCO2A1 gene c.1406C>T mutation may be pathogenic.
