European Journal of Pediatrics

, Volume 166, Issue 12, pp 1237–1243 | Cite as

Pachydermoperiostosis–critical analysis with report of five unusual cases

  • Anna Latos-Bielenska
  • Ivo Marik
  • Miroslaw Kuklik
  • Anna Materna-Kiryluk
  • Czeslaw Povysil
  • Kazimierz Kozlowski
Original Paper

Abstract

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.

Keywords

Pachydermoperiostosis Pachydermia Digital clubbing Periostosis Villonodular synovitis 

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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Anna Latos-Bielenska
    • 1
  • Ivo Marik
    • 2
  • Miroslaw Kuklik
    • 2
  • Anna Materna-Kiryluk
    • 1
  • Czeslaw Povysil
    • 3
  • Kazimierz Kozlowski
    • 4
    • 5
  1. 1.Department of Medical GeneticsUniversity of Medical SciencesPoznanPoland
  2. 2.Ambulant Centre of Defects of Locomotor ApparatusPragueCzech Republic
  3. 3.Institute of Pathologic AnatomyCharles UniversityPragueCzech Republic
  4. 4.Department of Medical ImagingNew Children’s HospitalSydneyAustralia
  5. 5.Department of Medical ImagingNew Children’s HospitalWestmeadAustralia

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