Skin manifestations of mitochondrial DNA syndromes: Case report and review

被引:7
|
作者
Flynn, MK
Wee, SA
Lane, AT
机构
[1] Stanford Univ, Med Ctr, Dept Dermatol, Stanford, CA 94305 USA
[2] Stanford Univ, Med Ctr, Sch Med, Stanford, CA 94305 USA
关键词
D O I
10.1016/S0190-9622(98)70356-1
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Mitochondrial DNA syndromes are an emerging class of diseases that can present at any age. Clinical findings are legion and may include renal tubulopathy, growth retardation, myopathy, seizures, and ophthalmoplegia. Mitochondrial DNA syndromes have presented with symmetric cervical lipomas, poikiloderma, and anhidrosis. We describe a child with a novel mitochondrial DNA syndrome who had poikiloderma on sun-exposed areas. We also reviewed 274 patients with mitochondrial DNA disorders for skin findings. Symmetric cervical lipomas were consistently associated with myoclonic epilepsy as part of 1 syndrome. With the exception of lipomas, skin findings were reported in 16 patients.
引用
收藏
页码:819 / 823
页数:5
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