title: Hypertrichosis in patients with SURF1 mutations.
abstract: We present three patients with SURF1 mutations. In addition to Leigh syndrome all patients had hypertrichosis, a clinical sign that is not usually associated with Leigh syndrome. The hypertrichosis was not congenital and it was mainly distributed on the extremities and forehead. In addition to our three patients, we have identified five patients in the literature with hypertrichosis and Leigh syndrome due to SURF1 mutations. Since most patients had onset of hypertrichosis before the diagnosis of Leigh syndrome was made, we suggest that clinicians consider Leigh syndrome in patients with, for example, psychomotor retardation or other unspecific symptoms in combination with hypertrichosis.
authors.affiliation: John F. Kennedy Institute, Glostrup, Denmark. els@kennedy.dk
authors.forename: Elsebet
authors.initials: E
authors.lastname: Ostergaard
authors.forename: Irena
authors.initials: I
authors.lastname: Bradinova
authors.forename: Susanne Holst
authors.initials: SH
authors.lastname: Ravn
authors.forename: Flemming Juul
authors.initials: FJ
authors.lastname: Hansen
authors.forename: Emil
authors.initials: E
authors.lastname: Simeonov
authors.forename: Ernst
authors.initials: E
authors.lastname: Christensen
authors.forename: Flemming
authors.initials: F
authors.lastname: Wibrand
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
mesh_terms: D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000473:pathology; D008297:Male; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation; D011506:Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein