Hair anomalies as a sign of mitochondrial disease

Margherita Silengo, Mariella Valenzise, Marco Spada, Giovanni B. Ferrero, Silvio Ferraris, Patrizia Dassi, Laura Jarre

Research output: Contribution to journalArticlepeer-review


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. Conclusion: 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.

Original languageEnglish
Pages (from-to)459-461
Number of pages3
JournalEuropean Journal of Pediatrics
Issue number7-8
Publication statusPublished - Jul 1 2003


  • Hair abnormalities
  • Mitochondrial disease
  • Pili torti
  • Trichorrhexis nodosa

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Hair anomalies as a sign of mitochondrial disease'. Together they form a unique fingerprint.

Cite this