Tyrosinemia II: report of an incomplete case and studies on the hyperkeratotic stratum corneum.

Abstract

We report a case of tyrosinemia II in a 20-year-old man who had painful palmoplantar hyperkeratotic lesions and corneal erosion. His serum tyrosine level was more than 10 times above normal. Though dietary control failed to eliminate the skin lesions, etretinate cleared them temporarily and grafted skin from the buttock did not become hyperkeratotic during the observation period of 1 1/2 years. Amino acid analysis in the hyperkeratotic stratum corneum disclosed a moderate increase not only in soluble tyrosine but also in other amino acid contents. Turnover time of the hyperkeratotic stratum corneum was greatly elongated as compared with that of the grafted site.