Carmi E, Defossez C, Morin G, Fraitag S, Lok C, Westeel P F, Canaple S, Denoeux J P
Service de Dermatologie et Vénéréologie, CHU Amiens.
Ann Dermatol Venereol. 2001 Oct;128(10 Pt 1):1031-5.
The MELAS syndrome (Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes) belongs to the category of mitochondrial disorders. The most common molecular etiology of the syndrome is a mutation A to G transition at base pair 3243 in the mitochondrial genome. The phenotype is varied and depends on the proportion of DNA muted and which organ on aerobic metabolism suffers most.
CASE-REPORT: An 17 year-old woman had successively neurosensory hearing loss, renal disease, cardiomyopathy, diabetes mellitus, lactic acidosis and stroke-like episodes that evoked a MELAS syndrome.
The skin manifestations of patients with MELAS syndrome are scaly, pruritic, diffuse erythema, reticular pigmentation, moderate hypertrichosis, seborrheic eczema, atopy and vitiligo. Our patient presented severe hirsutism and reticular pigmentation of the limbs. No abnormal histologic and electron microscopic findings were noted in the skin or the follicles involved.
线粒体脑肌病伴乳酸血症和卒中样发作综合征（MELAS）属于线粒体疾病范畴。该综合征最常见的分子病因是线粒体基因组中第3243个碱基对处的A到G转换突变。其表型多样，取决于突变DNA的比例以及有氧代谢受累最严重的器官。
一名17岁女性先后出现神经感觉性听力丧失、肾病、心肌病、糖尿病、乳酸血症和卒中样发作，引发了MELAS综合征。
MELAS综合征患者的皮肤表现为鳞屑状、瘙痒性、弥漫性红斑、网状色素沉着、中度多毛、脂溢性湿疹、特应性皮炎和白癜风。我们的患者表现为严重多毛症和四肢网状色素沉着。在受累的皮肤或毛囊中未发现异常的组织学和电子显微镜检查结果。
