Background: Familial cylindromatosis is a rare genetic disorder, giving rise to neoplasms of the skin appendages. We have recently shown that loss of the cylindromatosis tumour suppressor gene leads to activation of ...Background: Familial cylindromatosis is a rare genetic disorder, giving rise to neoplasms of the skin appendages. We have recently shown that loss of the cylindromatosis tumour suppressor gene leads to activation of NF-κ B, a transcription factor having antiapoptotic activity. This provides a possible explanation for the deregulated growth of cylindromas. In cell-based assays, salicylate can prevent NF-κ B activation caused by loss of the cylindromatosis gene, suggesting that salicylic acid application might be a potential treatment for cylindromatosis. Objectives: To assess the effectiveness of topical application of salicylic acid on familial cylindromas. Methods: Cylindromas in five patients from four different cylindromatosis families were treated with twice daily and then once daily topical salicylic acid. Clinical response was determined by serial tumour measurements. Results: In total 17 cylindromas in five patients were studied: 12 target lesions and five control lesions. The median size of the cylindromas was 1.0 cm (range, 0.6- 2.8 cm). Two of the 12 cylindromas showed a complete remission. Another eight lesions showed some response, but not sufficient to qualify as partial remission. The control lesions remained stable or increased in size. Conclusions: Salicylic acid is a well-tolerated and potential new treatment for cylindromatosis.展开更多
基金This work was supported by grants from the National Natural Science Foundation of China （30370694, 30421005, 30623003, 30400245 and 30630036）, the Ministry of Science and Technology of China （2002CB513006, 2006CB943902 and 2006AA02Z 169）, the Chinese Acad- emy of Sciences （KSCX2-YW-R-67 and KJCX2-YW-H08） and the Shanghai Municipal Commission for Science and Technology （04JC14078, 06DZ22032, 055407035 and 058014578）.
文摘Background: Familial cylindromatosis is a rare genetic disorder, giving rise to neoplasms of the skin appendages. We have recently shown that loss of the cylindromatosis tumour suppressor gene leads to activation of NF-κ B, a transcription factor having antiapoptotic activity. This provides a possible explanation for the deregulated growth of cylindromas. In cell-based assays, salicylate can prevent NF-κ B activation caused by loss of the cylindromatosis gene, suggesting that salicylic acid application might be a potential treatment for cylindromatosis. Objectives: To assess the effectiveness of topical application of salicylic acid on familial cylindromas. Methods: Cylindromas in five patients from four different cylindromatosis families were treated with twice daily and then once daily topical salicylic acid. Clinical response was determined by serial tumour measurements. Results: In total 17 cylindromas in five patients were studied: 12 target lesions and five control lesions. The median size of the cylindromas was 1.0 cm (range, 0.6- 2.8 cm). Two of the 12 cylindromas showed a complete remission. Another eight lesions showed some response, but not sufficient to qualify as partial remission. The control lesions remained stable or increased in size. Conclusions: Salicylic acid is a well-tolerated and potential new treatment for cylindromatosis.
