MELAS syndrome (Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes)

Background. The MELAS syndrome (Mitochondrial Encephalopathy, Lactic Acidos is and Stroke-like episodes) belongs to the category of mitochondrial disor ders. 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 aer obic metabolism suffers most. Case-report. An 17 year-old woman had successively neurosensory hearing los s, renal disease, cardiomyopathy, diabetes mellitus, lactic acidosis and st roke-like episodes that evoked a MELAS syndrome. Discussion. The skin manifestations of patients with MELAS syndrome are sca ly, pruritic, diffuse erythema, reticular pigmentation, moderate hypertrich osis, seborrheic eczema, atopy and vitiligo. Our patient presented severe h irsutism and reticular pigmentation of the limbs. Nc abnormal histologic an d electron microscopic findings were noted in the skin or the follicles inv olved.