特雷彻·柯林斯综合征与并存的皮肌炎。
Treacher-Collins syndrome and co-existing dermatomyositis.
作者信息
Larenas-Linnemann D E, Berrón-Perez R, Ortega-Martell J A, Onuma-Takane E, Huicochea-Grobet Z
机构信息
Instituto Nacional de Pediatria, Mexico City, Mexico.
出版信息
Ann Allergy Asthma Immunol. 1998 Jan;80(1):50-4. doi: 10.1016/S1081-1206(10)62939-0.
BACKGROUND
Treacher-Collins syndrome, an autosomal dominantly inherited malformation of structures derived from the first and second branchial arch, has an incidence of 1:10,000 newborns. The prevalence of dermatomyositis at less than 24 years of age has been estimated at 1 per 100,000. The occurrence of both Treacher-Collins syndrome and dermatomyositis combined in the same patient should occur once in every 1,000,000,000 subjects.
METHODS
We report a patient with Treacher-Collins syndrome who developed dermatomyositis at the age of 5 years.
RESULTS
No other patient with both Treacher-Collins syndrome and an autoimmune disease has been reported. The thymus originates from the third branchial pouch and is unaffected by the syndrome. In Treacher-Collins syndrome the affected gene has been mapped to the fifth chromosome, while dermatomyositis is related to HLA B8 and DR3, coded on the sixth chromosome. No immunologic alteration has been described in patients with Treacher-Collins syndrome.
CONCLUSION
This is the first report of a patient with Treacher-Collins syndrome and dermatomyositis. There is no genetic or physiopathologic explanation for the concurrence of both conditions.
背景
特雷彻-柯林斯综合征是一种常染色体显性遗传的、源于第一和第二鳃弓结构的畸形疾病，在新生儿中的发病率为1:10000。据估计，24岁以下皮肌炎的患病率为十万分之一。同一患者同时患有特雷彻-柯林斯综合征和皮肌炎的情况应该在每十亿人中出现一次。
方法
我们报告了一名5岁时患上皮肌炎的特雷彻-柯林斯综合征患者。
结果
此前尚无同时患有特雷彻-柯林斯综合征和自身免疫性疾病的患者的报道。胸腺起源于第三鳃囊，不受该综合征影响。在特雷彻-柯林斯综合征中，相关基因已被定位到第五条染色体，而皮肌炎与第六条染色体上编码的HLA B8和DR3相关。尚无关于特雷彻-柯林斯综合征患者免疫改变的描述。
结论
这是首例关于特雷彻-柯林斯综合征合并皮肌炎患者的报告。两种疾病同时发生尚无遗传学或病理生理学解释。
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