Trichorrhexis nodosa secondary to argininosuccinicaciduria.
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.
Fichtel
Jill C
JC
Section on Dermatology, Department of Medicine, The Medical College of Georgia, 1004 Chafee Avenue, Augusta, GA 30904, USA.
Richards
Judith A
JA
Davis
Loretta S
LS
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
D001125:Argininosuccinic Acid; D001120:Arginine