Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome
Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome
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DOI：
10.1111/j.1365-2230.2011.04231.x
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发表时间：
2012-06-01
影响因子：
4.1
通讯作者：
Tomb, R.
中科院分区：
文献类型：
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作者：
Maatouk, I.;Moutran, R.;Tomb, R.
内瑟顿综合征（NS）是一种罕见的、严重的常染色体隐性遗传性鱼鳞病。我们报告一例NS患者在口服低剂量异维A酸失败后，用窄带紫外线B（NB-UVB）光疗成功治疗。一个16岁的女孩出生的近亲父母提出了严重的鱼鳞病。在检查她的头发时，她被发现患有内陷性毛发断裂症。遗传学分析揭示了NS特异性的SPINK 5突变。病人的表亲也有同样的突变。患者在长期应用局部类固醇后出现库欣综合征。她接受了低剂量口服异维甲酸治疗，但没有获益。开始NB-UVB光疗，2个月后明显改善。总之，我们报告一例NS与低剂量口服异维A酸失败，NB-UVB光疗，通过其诱导凋亡和免疫调节作用，是有效的。然而，长期使用UVB受到其潜在副作用的限制。
Netherton syndrome (NS) is a rare and severe autosomal recessive ichthyosis. We report the case of a patient with NS treated successfully with narrowband ultraviolet B (NB-UVB) phototherapy after failure of low-dose oral isotretinoin. A 16-year-old girl born to consanguineous parents presented with severe ichthyosis. On examination of her hair, she was found to have trichorrhexis invaginata. Genetic analysis revealed a SPINK5 mutation specific for NS. The patients cousin had the same mutation. The patient developed Cushing syndrome after long-term application of topical steroids. She was treated with low-dose oral isotretinoin with no benefit. NB-UVB phototherapy was started, which resulted in marked improvement after 2 months. In conclusion, we report a case of NS with failure of low-dose oral isotretinoin, for which NB-UVB phototherapy, through its apoptosis-inducing and immunomodulatory effects, was effective. However, long-term use of UVB is limited by its potential side-effects.