Latos-Bielenska Anna, Marik Ivo, Kuklik Miroslaw, Materna-Kiryluk Anna, Povysil Czeslaw, Kozlowski Kazimierz
Department of Medical Genetics, University of Medical Sciences, Poznan, Poland.
Eur J Pediatr. 2007 Dec;166(12):1237-43. doi: 10.1007/s00431-006-0407-6. Epub 2007 Feb 7.
Pachydermoperiostosis (idiopathic hypertrophic arthropathy) {MIM 167100} is an uncommon disease characterized by unique phenotype (digital clubbing and pachydermia) and distinctive radiographic appearances (periostosis). Two families are reported that, in additional to the typical phenotype and radiographic characteristics of pachydermoperiostosis, show some rare and/or unusual, not yet reported, clinical findings. In the first family, distinctive features were severe progressive arthritis with villonodular involvement of the knees. The clinical course of the disease was much more severe than usually reported. The older brother was disabled at the age of 29 years. In the second family, the clinical history was exceptional, with unique early appearance of clinical signs. Pachydermoperiostosis is usually inherited as a dominant trait, but probable autosomal recessive inheritance has been reported. Also in the present families, autosomal recessive inheritance is likely, possibly explaining the severe clinical course of the disease. Differential diagnosis and the confusing nomenclature of pachydermoperiostosis are discussed.
厚皮性骨膜病（特发性肥大性骨关节病）{MIM 167100}是一种罕见疾病，其特征为独特的表型（杵状指和厚皮症）以及独特的影像学表现（骨膜增生）。本文报告了两个家系，除具有厚皮性骨膜病的典型表型和影像学特征外，还表现出一些罕见和/或不寻常、尚未见报道的临床发现。在第一个家系中，显著特征为重度进行性关节炎伴膝关节绒毛结节样受累。该疾病的临床病程比通常报道的更为严重。哥哥在29岁时就出现残疾。在第二个家系中，临床病史不同寻常，临床体征出现得很早。厚皮性骨膜病通常以显性性状遗传，但也有常染色体隐性遗传的报道。在本研究的家系中，也可能是常染色体隐性遗传，这或许可以解释该疾病严重的临床病程。文中还讨论了厚皮性骨膜病的鉴别诊断及令人困惑的命名法。
