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 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.
Flynn
M K
MK
Department of Dermatology, Stanford University Medical Center, California, USA.
Wee
S A
SA
Lane
A T
AT
D000140:Acidosis, Lactic / Q000209:etiology; D020029:Base Pairing / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000209:etiology; D005076:Exanthema / Q000209:etiology; D005260:Female; D017353:Gene Deletion; D006258:Head and Neck Neoplasms / Q000209:etiology; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000209:etiology; D007684:Kidney Tubules / Q000473:pathology; D008067:Lipoma / Q000209:etiology; D010787:Photosensitivity Disorders / Q000209:etiology*; D010859:Pigmentation Disorders / Q000209:etiology*; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome
D004272:DNA, Mitochondrial