Skin manifestations of mitochondrial DNA syndromes: Case report and review - 09/09/11
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. (J Am Acad Dermatol 1998;39:819-23.)
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 | This article is made possible through an educational grant from Ortho Dermatological. |
| Reprint requests: Alfred T. Lane, MD, FAAP, Department of Dermatology, 900 Blake Wilbur Dr, W0071, Stanford, CA 94305-5334. E-mail: alfred.lane@stanford.edu |
 | 0190-9622/98/$5.00 + 0 16/4/93171 |
Vol 39 - N° 5S
P. 819-823 - novembre 1998 Retour au numéro
- Scarring alopecia and sclerodermatous changes of the scalp in a patient with hepatitis C infection
- J.Mark Jackson, Jeffrey P. Callen
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