Familial diffuse pulmonary ossification: A possible genetic disorder

Respir Investig. 2017 Jan;55(1):79-82. doi: 10.1016/j.resinv.2016.10.005. Epub 2016 Nov 17.

Abstract

Diffuse pulmonary ossification (DPO) is an uncommon disease that is characterized by the widespread formation of ectopic bone in the lungs. Herein, we describe two familial cases of DPO. The patients were a 47-year-old woman and her 76-year-old father. Both patients had a history of recurrent cough, and their chest images showed multiple nodules with ossification. No underlying diseases that might have caused DPO were evident; however, the female patient also had congenital finger hypoplasia and deformity. The present cases indicate the possibility that DPO might be partly associated with genetic disorders.

Keywords: Diffuse pulmonary ossification; Ectopic bone formation; Familial occurrence; Nodular pulmonary ossification.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Female
  • Humans
  • Lung / diagnostic imaging
  • Lung / pathology
  • Lung Diseases, Interstitial / diagnostic imaging
  • Lung Diseases, Interstitial / genetics*
  • Lung Diseases, Interstitial / pathology
  • Male
  • Middle Aged
  • Ossification, Heterotopic / diagnostic imaging
  • Ossification, Heterotopic / genetics*
  • Ossification, Heterotopic / pathology
  • Tomography, X-Ray Computed