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November 2005

Facial Erythema and Onychoschizia—Diagnosis

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Copyright 2005 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2005

Arch Dermatol. 2005;141(11):1457-1462. doi:10.1001/archderm.141.11.1457-e

The hematoxylin-eosin–stained punch biopsy specimen revealed mild acanthosis and hyperkeratosis, with a predominance of parakeratosis and mild perivascular infiltration of the upper dermis. Biotinidase activity was reduced to 50% and 26% (reference value, 8.4 nmol/min per milliliter) in the patient’s father and mother, respectively. Carboxylase activity was determined in a sample of the patient’s lymphocytes, revealing a significant reduction of propionyl-CoA [coenzyme A] carboxylase, β-methylcrotonyl-CoA carboxylase, and pyruvate carboxylase to 26%, 36%, and 54%, respectively, of the levels seen in a normal unrelated control sample. Quantitative serum amino acid values were normal, and a urinary organic acid screen revealed mildly elevated concentrations of β-methylcrotonylglycine and methylcitrate. The results of the rest of the laboratory studies, including complete blood cell count, differential cell count, standard chemistry panel, and liver function tests, were normal.

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