Document Detail


Skin manifestations of mitochondrial DNA syndromes: case report and review.
MedLine Citation:
PMID:  9810906     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M K Flynn; S A Wee; A T Lane
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of the American Academy of Dermatology     Volume:  39     ISSN:  0190-9622     ISO Abbreviation:  J. Am. Acad. Dermatol.     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1998-11-24     Completed Date:  1998-11-24     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7907132     Medline TA:  J Am Acad Dermatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  819-23     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Stanford University Medical Center, California, USA.
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MeSH Terms
Descriptor/Qualifier:
Acidosis, Lactic / etiology
Base Pairing / genetics
DNA, Mitochondrial / genetics*
Epilepsies, Myoclonic / etiology
Exanthema / etiology
Female
Gene Deletion
Head and Neck Neoplasms / etiology
Humans
Infant
Kidney Diseases / etiology
Kidney Tubules / pathology
Lipoma / etiology
Photosensitivity Disorders / etiology*
Pigmentation Disorders / etiology*
Point Mutation / genetics
Syndrome
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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