title: Trichorrhexis nodosa secondary to argininosuccinicaciduria.
abstract: Argininosuccinicaciduria is a rare metabolic disorder of the urea cycle associated with the inability to excrete nitrogenous waste in the form of urea. Along with low serum arginine, hepatomegaly, and mental retardation, congenital trichorrhexis nodosa is a distinguishing feature of the disorder. We present a 3.5-year-old girl diagnosed with argininosuccinicaciduria who presented to the dermatology clinic with hair thinning and loss since birth. Microscopic evaluation revealed nodular swellings on the hair shafts and frayed cortical fibers consistent with the diagnosis of trichorrhexis nodosa occurring in the setting of argininosuccinicaciduria.
authors.affiliation: Section on Dermatology, Department of Medicine, The Medical College of Georgia, 1004 Chafee Avenue, Augusta, GA 30904, USA.
authors.forename: Jill C
authors.initials: JC
authors.lastname: Fichtel
authors.forename: Judith A
authors.initials: JA
authors.lastname: Richards
authors.forename: Loretta S
authors.initials: LS
authors.lastname: Davis
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001120:Arginine / Q000378:metabolism*; D001125:Argininosuccinic Acid / Q000652:urine*; D002675:Child, Preschool; D005260:Female; D006201:Hair Diseases / Q000151:congenital* / Q000378:metabolism; D006801:Humans
chemical_list: D001125:Argininosuccinic Acid; D001120:Arginine