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[Buschke-Ollendorff syndrome]

P de la Salmonière1, M Janier, K Chemlal

  • 1Service de Dermatologie, Hôpital Saint-Joseph, Paris.

Annales De Dermatologie Et De Venereologie
|January 1, 1994
PubMed
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Buschke-Ollendorff syndrome (BOS) is a rare genetic connective tissue disorder. A new case highlights its association with protein C deficiency, potentially linked by genes on chromosome 2q.

Area of Science:

  • Genetics
  • Dermatology
  • Radiology

Background:

  • Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant connective tissue disorder.
  • It is characterized by specific skin manifestations (dermatofibrosis lenticularis disseminata) and bone abnormalities (osteopoikilosis).
  • Diagnosis can be challenging based solely on cutaneous findings.

Observation:

  • A case report of a 66-year-old man with BOS is presented.
  • This patient also exhibited protein C deficiency, another rare genetic disorder.
  • The co-occurrence of these two rare conditions is noteworthy.

Findings:

  • The study emphasizes the importance of bone X-rays for BOS diagnosis, especially when atypical skin lesions are present.
  • Osteopoikilotic bone lesions, which can resemble Paget's disease, are key diagnostic indicators.

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  • The association with protein C deficiency is investigated.

    • Implications:

    • The co-occurrence of BOS and protein C deficiency may not be coincidental.
    • Both the elastin gene (associated with BOS) and the protein C gene are located on chromosome 2q.
    • This genetic proximity suggests a potential link or shared genetic factors between the two conditions.