布希克-奥伦多夫综合征
Buschke-Ollendorff syndrome.
作者信息
Schena Donatella, Germi Lerica, Zamperetti Maria Rosa, Colato Chiara, Girolomoni Giampiero
机构信息
Department of Biomedical and Surgical Sciences, Section of Dermatology and Venereology, University of Verona, Verona, Italy.
出版信息
Int J Dermatol. 2008 Nov;47(11):1159-61. doi: 10.1111/j.1365-4632.2008.03727.x.
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.
背景
Buschke-Ollendorff综合征是一种罕见的常染色体显性疾病，其特征为骨斑点症和皮肤病变。它由一种在骨骼和结缔组织形态发生中起重要作用的蛋白质基因突变引起。
方法
我们描述了一名患有Buschke-Ollendorff综合征的39岁女性。
结果
一名39岁女性在轻微创伤后，对其左脚踝进行的放射学检查显示出骨斑点症的特征。对该患者的体格检查发现其双大腿有多个无症状结节，自20岁起就存在，且大小和数量都有所增加。最近，右大腿出现了一条线状、条索状病变。
结论
正确诊断Buschke-Ollendorff综合征可能需要高度的怀疑指数。
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