Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0162671 (
MELAS
)
587
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Skin abnormalities in a patient with newly diagnosed
MELAS syndrome
are reported. He presented with scaly, pruritic, diffuse
erythema
with reticular pigmentation on his entire body. Moderate hypertrichosis was also noted on the lower extremities. Thickened arrector muscles with longitudinal and cross sections were seen in the dermis. Analysis of mitochondrial DNA in a biopsy specimen from the biceps brachii disclosed the presence of an A-to-G point mutation at nucleotide pair 3243. Electron microscopy revealed marked increase in the number of morphologically abnormal mitochondria in the arrector muscles of the involved skin. This is the first report of a
MELAS syndrome
patient with skin manifestations and evidence of morphologically abnormal mitochondria.
...
PMID:Skin manifestations of a patient with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS syndrome). 1045 25
