Skin manifestations of mitochondrial DNA syndromes: case report and review.
J Am Acad Dermatol
; 39(5 Pt 2): 819-23, 1998 Nov.
Article
in En
| MEDLINE
| ID: mdl-9810906
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Photosensitivity Disorders
/
Pigmentation Disorders
/
DNA, Mitochondrial
Type of study:
Etiology_studies
Limits:
Female
/
Humans
/
Infant
Language:
En
Journal:
J Am Acad Dermatol
Year:
1998
Document type:
Article
Affiliation country:
United States