SKIN MANIFESTATIONS OF MITOCHONDRIAL-DNA SYNDROMES - CASE-REPORT AND REVIEW

Mitochondrial DNA syndromes are an emerging class of diseases that can present at any age. Clinical findings are legion and may include rena l tubulopathy, growth retardation, myopathy, seizures, and ophthalmopl egia. Mitochondrial DNA syndromes have presented with symmetric cervic al lipomas, poikiloderma, and anhidrosis. We describe a child with a n ovel mitochondrial DNA syndrome who had poikiloderma on sun-exposed ar eas. We also reviewed 274 patients with mitochondrial DNA disorders fo r skin findings. Symmetric cervical lipomas were consistently associat ed with myoclonic epilepsy as part of 1 syndrome. With the exception o f lipomas, skin findings were reported in 16 patients.