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Skin manifestations of mitochondrial DNA syndromes: Case report and review JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Flynn, M. K., Wee, S. A., Lane, A. T. 1998; 39 (5): 819-823

Abstract

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.

View details for Web of Science ID 000076813000001

View details for PubMedID 9810906