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 of mitochondrial disorders.


CONCLUSIONS
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.
Silengo
Margherita
M
I Divisione di Clinica Pediatrica, Universita' di Torino, Piazza Polonia 94, 10126, Torino, Italy. margherita.cirillosilengo@unito.it.
Valenzise
Mariella
M
I Divisione di Clinica Pediatrica, Universita' di Torino, Piazza Polonia 94, 10126, Torino, Italy.
Spada
Marco
M
I Divisione di Clinica Pediatrica, Universita' di Torino, Piazza Polonia 94, 10126, Torino, Italy.
Ferrero
Giovanni B
GB
I Divisione di Clinica Pediatrica, Universita' di Torino, Piazza Polonia 94, 10126, Torino, Italy.
Ferraris
Silvio
S
I Divisione di Clinica Pediatrica, Universita' di Torino, Piazza Polonia 94, 10126, Torino, Italy.
Dassi
Patrizia
P
Scuola di Specializzazione in Neuropsichiatria Infantile, Universita' di Torino, Torino, Italy.
Jarre
Laura
L
Neuropsichiatria Infantile,ASL 2, Ospedale Martini, Torino, Italy.
D002648:Child; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000378:metabolism; D010085:Oxidative Phosphorylation