Chen Yan Jing, Li Li
Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.
Clin Cosmet Investig Dermatol. 2023 Jan 6;16:47-52. doi: 10.2147/CCID.S389766. eCollection 2023.
Pachydermoperiostosis is a rare genetic disease that is associated with HPGD (15-hydroxyprostaglandin dehydrogenase) and SLCO2A1 (solute carrier organic anion transporter family member 2A1) gene mutations. It is characterized by three major phenotypes, namely, pachydermia, periostosis, and digital clubbing. Clinically, misdiagnoses such as acromegaly and thyroid acropachy are commonly confused with pachydermoperiostosis. Integral medical history, physical examination, endocrinological tests, and multiple disciplinary cooperation are extremely significant in the accurate diagnosis of pachydermoperiostosis. The co-existence of pachydermoperiostosis and pituitary adenoma is rarely recorded and discussed. In this case, we present a young male patient with a complete form of pachydermoperiostosis and a nonfunctional pituitary microadenoma, which has rarely been reported.
厚皮性骨膜病是一种罕见的遗传性疾病，与HPGD（15-羟基前列腺素脱氢酶）和SLCO2A1（溶质载体有机阴离子转运蛋白家族成员2A1）基因突变相关。它具有三种主要表型，即厚皮症、骨膜增生和杵状指。临床上，肢端肥大症和甲状腺性杵状指等误诊常与厚皮性骨膜病相混淆。完整的病史、体格检查、内分泌检查以及多学科合作对于准确诊断厚皮性骨膜病极为重要。厚皮性骨膜病与垂体腺瘤并存的情况鲜有记录和讨论。在此病例中，我们报告了一名患有完全型厚皮性骨膜病和无功能垂体微腺瘤的年轻男性患者，这种情况鲜有报道。
