title: Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair.
abstract: We report a male infant with Menkes' disease who showed, at the age of 3 months, slow growth, hair abnormalities such as pili torti and white hair, and low levels of serum copper and ceruloplasmin. The exceptionally bright portions of his hair contained eumelanin and pheomelanin at levels only half those of normal Japanese controls. After subcutaneous administration of copper-histidinate for 2 months, his scalp hair changed to dark brown.
authors.affiliation: Department of Dermatology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tomita
authors.forename: Y
authors.initials: Y
authors.lastname: Kondo
authors.forename: S
authors.initials: S
authors.lastname: Ito
authors.forename: M
authors.initials: M
authors.lastname: Hara
authors.forename: T
authors.initials: T
authors.lastname: Yoshimura
authors.forename: H
authors.initials: H
authors.lastname: Igarashi
authors.forename: H
authors.initials: H
authors.lastname: Tagami
mesh_terms: D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000172:deficiency / Q000627:therapeutic use; D006197:Hair / Q000737:chemistry / Q000648:ultrastructure; D006200:Hair Color; D006639:Histidine / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D008543:Melanins / Q000032:analysis*; D007706:Menkes Kinky Hair Syndrome / Q000188:drug therapy / Q000378:metabolism*; D010859:Pigmentation Disorders / Q000209:etiology
chemical_list: D008543:Melanins; C018362:pheomelanin; C041877:eumelanin; D006639:Histidine; D003300:Copper; D002570:Ceruloplasmin