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Hair anomalies as a sign of mitochondrial disease

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Abstract

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.

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Acknowledgements

We thank Prof. M. Zeviani of the Besta Neurological Institute in Milano for the mitochondrial enzyme and DNA studies of our patients. We also thank the Anatomy Institute of Turin University for the scanning electron microscopic analysis of the hair.

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Authors and Affiliations

  1. I Divisione di Clinica Pediatrica, Universita' di Torino, Piazza Polonia 94, 10126, Torino, Italy

    Margherita Silengo, Mariella Valenzise, Marco Spada, Giovanni B. Ferrero & Silvio Ferraris

  2. Scuola di Specializzazione in Neuropsichiatria Infantile, Universita' di Torino, Torino, Italy

    Patrizia Dassi

  3. Neuropsichiatria Infantile,ASL 2, Ospedale Martini, Torino, Italy

    Laura Jarre

Authors
  1. Margherita Silengo
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  2. Mariella Valenzise
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  3. Marco Spada
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  4. Giovanni B. Ferrero
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  5. Silvio Ferraris
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  6. Patrizia Dassi
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  7. Laura Jarre
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Corresponding author

Correspondence to Margherita Silengo.

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Silengo, M., Valenzise, M., Spada, M. et al. Hair anomalies as a sign of mitochondrial disease. Eur J Pediatr 162, 459–461 (2003). https://doi.org/10.1007/s00431-003-1228-5

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  • DOI: https://doi.org/10.1007/s00431-003-1228-5

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