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.
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.
Authors: Bahar Dasgeb; Michael A Morris; Christina M Ring; Darius Mehregan; Michael E Mulligan Journal: Br J Radiol Date: 2016-09-16 Impact factor: 3.039