Margherita Silengo1, Mariella Valenzise2, Marco Spada2, Giovanni B Ferrero2, Silvio Ferraris2, Patrizia Dassi3, Laura Jarre4. 1. I Divisione di Clinica Pediatrica, Universita' di Torino, Piazza Polonia 94, 10126, Torino, Italy. margherita.cirillosilengo@unito.it. 2. I Divisione di Clinica Pediatrica, Universita' di Torino, Piazza Polonia 94, 10126, Torino, Italy. 3. Scuola di Specializzazione in Neuropsichiatria Infantile, Universita' di Torino, Torino, Italy. 4. Neuropsichiatria Infantile,ASL 2, Ospedale Martini, Torino, Italy.
Abstract
UNLABELLED: 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.
UNLABELLED: 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.
Authors: A Rötig; J L Bessis; N Romero; V Cormier; J M Saudubray; P Narcy; G Lenoir; P Rustin; A Munnich Journal: Am J Hum Genet Date: 1992-02 Impact factor: 11.025
Authors: C Bodemer; A Rötig; P Rustin; V Cormier; P Niaudet; J M Saudubray; D Rabier; A Munnich; Y de Prost Journal: Pediatrics Date: 1999-02 Impact factor: 7.124
Authors: Dillon W Leong; Jasper C Komen; Chelsee A Hewitt; Estelle Arnaud; Matthew McKenzie; Belinda Phipson; Melanie Bahlo; Adrienne Laskowski; Sarah A Kinkel; Gayle M Davey; William R Heath; Anne K Voss; René P Zahedi; James J Pitt; Roman Chrast; Albert Sickmann; Michael T Ryan; Gordon K Smyth; David R Thorburn; Hamish S Scott Journal: J Biol Chem Date: 2012-04-25 Impact factor: 5.157