2. Academic Validation
  3. Buschke-Ollendorff syndrome

Buschke-Ollendorff syndrome

  • Int J Dermatol. 2008 Nov;47(11):1159-61. doi: 10.1111/j.1365-4632.2008.03727.x.
Donatella Schena 1,  Lerica Germi,  Maria Rosa Zamperetti,  Chiara Colato,  Giampiero Girolomoni
Affiliations

Affiliation

  • 1 Department of Biomedical and Surgical Sciences, Section of Dermatology and Venereology, University of Verona, Verona, Italy. [email protected]
PMID: 18986450 DOI: 10.1111/j.1365-4632.2008.03727.x
Abstract

Background: Buschke-Ollendorff syndrome is a rare autosomal dominant disease featuring osteopoikilosis and skin lesions. It is caused by genetic mutations in a protein deeply involved in bone and connective tissue morphogenesis.

Methods: We describe a 39-year-old woman with Buschke-Ollendorff syndrome.

Results: After a minor trauma, radiologic examination of the left ankle of a 39-year-old woman revealed features of osteopoikilosis. Physical examination of the patient showed multiple asymptomatic nodules on both thighs, present since the age of 20 years, which had increased in size and number. Recently, a linear, string-like lesion had appeared on the right thigh.

Conclusion: The correct diagnosis of Buschke-Ollendorff syndrome may require a high index of suspicion.

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