Buschke-Ollendorff syndrome

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.