Skin manifestations of a patient with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS syndrome).

Skin abnormalities in a patient with newly diagnosed MELAS syndrome are reported. He presented with scaly, pruritic, diffuse erythema with reticular pigmentation on his entire body. Moderate hypertrichosis was also noted on the lower extremities. Thickened arrector muscles with longitudinal and cross sections were seen in the dermis. Analysis of mitochondrial DNA in a biopsy specimen from the biceps brachii disclosed the presence of an A-to-G point mutation at nucleotide pair 3243. Electron microscopy revealed marked increase in the number of morphologically abnormal mitochondria in the arrector muscles of the involved skin. This is the first report of a MELAS syndrome patient with skin manifestations and evidence of morphologically abnormal mitochondria.