Harifi G, Younsi R, Ouilki I, Belkhou A, El Hassani S
Service de rhumatologie, centre hospitalo-universitaire Mohamed VI, B.P. 2659, Marrakech, Maroc.
Rev Med Interne. 2008 Apr;29(4):335-6. doi: 10.1016/j.revmed.2007.10.418. Epub 2007 Nov 26.
Hypertrophic osteoarthropathy is a rare syndrome characterized by dysacromelia and periostosis with digital clubbing. Primary form is called pachydermoperiostosis. A case of a primary hypertrophic osteoarthropathy without pachydermia is reported in a 13-year-old boy, which was born of a consanguineous marriage. This case suggested an incomplete form of pachydermoperiostosis with a recessive inheritance. Pachydermoperiostosis is often familial and occurs predominantly in men. This affection is believed to be inherited in an autosomal dominant pattern but some autosomal recessive forms have also been reported.
肥厚性骨关节病是一种罕见的综合征,其特征为肢端肥大、骨膜增生伴杵状指。原发性形式称为厚皮性骨膜病。本文报道了一名13岁男孩的原发性肥厚性骨关节病病例,该男孩出生于近亲结婚家庭,无厚皮症表现。此病例提示为厚皮性骨膜病的不完全形式,呈隐性遗传。厚皮性骨膜病常具有家族性,主要发生于男性。一般认为该疾病以常染色体显性模式遗传,但也有一些常染色体隐性形式的报道。