Honaker Eric, Birkhead Andrew, Guillen Kennedy, Knuckles Melissa, Lima Florence, Zarate Yuri A, Cassidy Carter, Malluche Hartmut H, Rao Madhumathi
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, United States.
University of Kentucky College of Medicine, Lexington, KY 40536, United States.
JBMR Plus. 2025 May 8;9(6):ziaf055. doi: 10.1093/jbmrpl/ziaf055. eCollection 2025 Jun.
Pachydermoperiostosis (PDP) is a rare, male-predominant (9:1) primary hypertrophic osteoarthropathy of the skin and bone, commonly called the acromegaly mimic. Clinical diagnosis of PDP is based on a triad of digital clubbing, pachydermia with coarse facial features, and radiographic evidence of long bone periostosis. It can manifest in a complete or incomplete form, with skin involvement distinguishing the complete subtype. The etiology of PDP remains uncertain, though it has been associated with pathogenic variants in genes involved in prostaglandin E2 metabolism genes () in autosomal recessive primary hypertrophic osteoarthropathy-1 and in autosomal dominant primary hypertrophic osteoarthropathy. We present a 31-yr-old male with complete PDP with atypical clinical features of vertebral involvement, severe myelopathy and radiculopathy, mild digital clubbing, and frontal pachydermia. IGF-1 and HGH levels were normal despite the acromegalic features. Genetic testing did not identify variants in or . The patient exhibited elevated bone-specific alkaline phosphatase levels and increased BMD, supporting the diagnosis of PDP. Iliac crest bone biopsies were technically difficult and contained only dense cortical bone. Dermatologic manifestations were managed with glycopyrrolate, dupilumab, and topical treatments. His bone disease was treated with intravenous bisphosphonates, yielding a marked decrease in bone-specific alkaline phosphatase levels. This case reveals the necessity of considering PDP in differential diagnoses for patients with atypical acromegalic features and highlights the potential for vertebral involvement in PDP, expanding the understanding of its clinical presentation.
厚皮性骨膜病（PDP）是一种罕见的、男性为主（9:1）的皮肤和骨骼原发性肥厚性骨关节病，通常被称为肢端肥大症模仿病。PDP的临床诊断基于杵状指、面部特征粗糙的厚皮症以及长骨骨膜增生的影像学证据这三联征。它可表现为完全型或不完全型，皮肤受累可区分完全型亚型。PDP的病因仍不确定，尽管它与常染色体隐性原发性肥厚性骨关节病-1中参与前列腺素E2代谢基因的致病变异以及常染色体显性原发性肥厚性骨关节病有关。我们报告一名31岁男性，患有完全型PDP，具有椎体受累、严重脊髓病和神经根病、轻度杵状指以及额部厚皮症等非典型临床特征。尽管有肢端肥大症特征，但胰岛素样生长因子-1（IGF-1）和生长激素（HGH）水平正常。基因检测未发现相关基因变异。患者骨特异性碱性磷酸酶水平升高且骨密度增加，支持PDP的诊断。髂嵴骨活检技术难度大，仅包含致密的皮质骨。皮肤病表现采用格隆溴铵、度普利尤单抗和局部治疗进行处理。他的骨病采用静脉注射双膦酸盐治疗，骨特异性碱性磷酸酶水平显著下降。该病例揭示了对于具有非典型肢端肥大症特征的患者在鉴别诊断中考虑PDP的必要性，并突出了PDP中椎体受累的可能性，拓展了对其临床表现的认识。
