Nakano Yukako, Ohata Yasuhisa, Fujiwara Makoto, Kubota Takuo, Miyoshi Yoko, Ozono Keiichi
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan.
Faculty of Health and Nutrition, Osaka Shoin Women's University, Higashi-Osaka 577-8550, Japan.
Bone Rep. 2023 Mar 16;18:101673. doi: 10.1016/j.bonr.2023.101673. eCollection 2023 Jun.
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 . 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.
厚皮性骨膜病（PDP）是一种罕见的遗传性疾病，其特征为杵状指、厚皮症和骨膜增生。我们描述了一名患有PDP的日本男性患者，通过鉴定……中的复合杂合变异，该患者被误诊为肢端肥大症。最近的研究报道了PDP患者的各种临床表现以及骨骼和皮肤特征。基因检测不仅为PDP的诊断和与肢端肥大症的鉴别提供了依据，还提供了有关患者一生中可能出现的并发症和合并症的信息。
