Hair anomalies as a sign of mitochondrial disease

European Journal of Pediatrics

Volumn 162, Issue 7-8, 2003, Pages 459-461

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

^a UNIVERSITY OF TURIN   (Italy)

^b Ospedale Martini   (Italy)

Author keywords

Hair abnormalities; Mitochondrial disease; Pili torti; Trichorrhexis nodosa

Indexed keywords

BIOTINIDASE; CERULOPLASMIN; COPPER; FOLIC ACID; LACTIC ACID; PYRUVIC ACID; ZINC;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EARLY DIAGNOSIS; FEMALE; HAIR DISEASE; HUMAN; MALE; MICROSCOPY; PRIORITY JOURNAL; STRUCTURE ANALYSIS; TRICHORRHEXIS; TWISTED HAIR;

CHILD; HAIR; HUMANS; MITOCHONDRIAL DISEASES; OXIDATIVE PHOSPHORYLATION;

EID: 0041846945     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1228-5     Document Type: Article

References (5)

1. Bodemer C, Rotig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, Rabier D, Munnich A, de Prost Y (1999) Hair and skin disorders as signs of mitochondrial disease. Pediatrics 103: 428-433
2. Munnich A, Rustin P (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet (Semin Med Genet) 106: 4-17
3. Rotig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G (1992) Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 50: 364-370
4. Silengo M, Valenzise M, Sorasio L, Ferrero GB (2002) The hair as a diagnostic tool in dysmorphology. Clin Genet 62: 270-272
5. Silengo M, Valenzise M, Pagliardini S, Spada M (2003) Hair changes in congenital disorders of glycosylation. Eur J Pediatr 162: 114-115