Supradeeptha Challa, Shandilya Sudhir M, Vikram Reddy K, Satyaprasad Jonnalagadda
Assistant Professor, Department of Orthopaedics, G.S.L Medical College, Rajahmundry, Andhrapradesh, India.
Resident, Department of Orthopaedics, G.S.L Medical College, Rajahmundry, Andhrapradesh, India.
J Clin Orthop Trauma. 2014 Mar;5(1):27-32. doi: 10.1016/j.jcot.2014.02.003. Epub 2014 Mar 20.
Pachydermoperiostosis, also known as Touraine-Solente-Golé syndrome/Rosenfeld-Kloepfer syndrome/primary or idiopathic Hypertrophic osteoarthropathy, is an autosomal-dominant/autosomal recessive inherited disorder with variable expression. In its complete form, it is characterized by pachyderma (thickening of the facial skin), skeletal changes (periostosis), excessive sweating (hyperhydrosis), and acropachia (digital clubbing). We report a patient with skeletal symptoms, associated with pachyderma and clubbing of fingers. Radiographs of patient showed periosteosis of distal end of long bones. We review the characteristic features of this syndrome. The patient required a close follow-up because of complications that might develop on the long-term.
厚皮性骨膜病,也称为图赖讷 - 索伦特 - 戈莱综合征/罗森菲尔德 - 克洛普费尔综合征/原发性或特发性肥厚性骨关节病,是一种具有可变表达的常染色体显性/常染色体隐性遗传性疾病。其完整形式的特征为厚皮症(面部皮肤增厚)、骨骼改变(骨膜增生)、多汗(多汗症)和杵状指(手指杵状变)。我们报告一例伴有厚皮症和手指杵状变的骨骼症状患者。患者的X线片显示长骨远端骨膜增生。我们回顾了该综合征的特征。由于可能会出现长期并发症,该患者需要密切随访。