1.
Pediatr Dermatol
; 24(1): 25-7, 2007.
Article
in English
| MEDLINE
| ID: mdl-17300644
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.
Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Arginine/metabolism , Argininosuccinic Acid/urine , Hair Diseases/congenital , Child, Preschool , Female , Hair Diseases/metabolism , Humans
2.
J Am Acad Dermatol
; 54(2): 360-1, 2006 Feb.
Article
in English
| MEDLINE
| ID: mdl-16443078
Subject(s)
Cushing Syndrome/drug therapy , Sarcoidosis/diagnosis , Adult , Anti-Bacterial Agents/therapeutic use , Drug Therapy, Combination , Female , Foot/pathology , Glucocorticoids/therapeutic use , Hand/pathology , Humans , Minocycline/therapeutic use , Potassium Iodide/administration & dosage , Potassium Iodide/therapeutic use , Prednisolone/therapeutic use , Sarcoidosis/drug therapy , Sarcoidosis/pathology
3.
J Am Acad Dermatol
; 52(2 Suppl 1): 59-61, 2005 Feb.
Article
in English
| MEDLINE
| ID: mdl-15692519