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  • Title: [MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes].
    Author: Carmi E, Defossez C, Morin G, Fraitag S, Lok C, Westeel PF, Canaple S, Denoeux JP.
    Journal: Ann Dermatol Venereol; 2001 Oct; 128(10 Pt 1):1031-5. PubMed ID: 11907964.
    Abstract:
    BACKGROUND: 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. DISCUSSION: 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.
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