[Buschke-Ollendorff syndrome]

Ann Dermatol Venereol. 1994;121(10):718-20.
[Article in French]

Abstract

The Buschke-Ollendorff syndrome (BOS) is a rare connective tissue disorder inherited in an autosomal dominant pattern characterized by cutaneous lesions, dermatofibrosis lenticularis disseminata, and osteopoikilosis. We report a new case of this syndrome in a 66 year old man, interesting by its association with a protein C deficiency, another rare genetically transmitted disease. Diagnosis of the BOS is difficult on the mere cutaneous lesions; it is therefore important to systematically practice bone X-rays in the presence of atypical pseudoxanthoma elasticum, disseminated collagenoma or disseminated connective tissue or elastic nevi. The radiologically detectable osteopoikilotic bone lesions, evoking Paget's disease, easily sign the diagnosis. In our case, the association of a protein C deficiency with the BOS may not be fortuitous because both the elastin and protein C genes are localized on chromosome 2q.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Aged
  • Connective Tissue Diseases / complications*
  • Connective Tissue Diseases / genetics
  • Elastic Tissue / pathology
  • Histiocytoma, Benign Fibrous / complications*
  • Histiocytoma, Benign Fibrous / genetics
  • Humans
  • Male
  • Osteopoikilosis / complications*
  • Osteopoikilosis / genetics
  • Protein C Deficiency
  • Skin Neoplasms / complications*
  • Skin Neoplasms / genetics
  • Syndrome