Hair anomalies as a sign of mitochondrial disease

In 8 out of 25 children with a mitochondrial disorder, slow growing, sparse and fragile hair was observed as an early sign of their disease. Microscopic examination of the hair showed the presence of trichorrhexis nodosa and pili torti. Hair abnormalities can be added to the wide clinical spectrum o...

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Bibliographic Details
Published in:European journal of pediatrics 2003-07, Vol.162 (7-8), p.459-461
Main Authors: SILENGO, Margherita, VALENZISE, Mariella, SPADA, Marco, FERRERO, Giovanni B, FERRARIS, Silvio, DASSI, Patrizia, JARRE, Laura
Format: Article
Language:English
Subjects:
Alopecia
Baldness
Biological and medical sciences
Biopsy
Cardiomyopathy
Child
Convulsions & seizures
Dermatology
Disease
Enzymes
Hair - abnormalities
Hair and nails disorders
Humans
Intellectual disabilities
Light
Medical sciences
Metabolism
Mitochondrial Diseases - diagnosis
Mitochondrial Diseases - metabolism
Mitochondrial DNA
Oxidative Phosphorylation
Patients
Phosphorylation
Scanning electron microscopy
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Summary:In 8 out of 25 children with a mitochondrial disorder, slow growing, sparse and fragile hair was observed as an early sign of their disease. Microscopic examination of the hair showed the presence of trichorrhexis nodosa and pili torti. Hair abnormalities can be added to the wide clinical spectrum of mitochondrial disorders. Microscopic hair examination is an easy, first level diagnostic tool that can lead to a suspected mitochondrial defect in the early stages of the disease, before symptoms of progressive multi-organ involvement develop.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-003-1228-5