Four cases of tyrosinaemia with cutaneous manifestations, but without ocular involvement, are reported in a family with consanguineous parents. The tyrosine levels in the serum and in the urine were normal in both parents, while in the offsprings the tyrosine levels were elevated 7 1/2-13 times in the serum and 3-13 times in the urine. Although the serum tyrosine levels in our cases were higher than most of the cases reported in the literature the eyes of all our patients were normal. The skin manifestations were very impressive, and varying degrees of mental retardation were present in all patients. The patients put on a low-protein diet improved considerably and have been kept symptom-free for 1 1/2 years. The possible implication of the discrepancy between the high serum levels and lack of ocular changes is discussed. Our results suggest that the Richner-Hanhart syndrome may include more than one distinct biochemical entity.
A clinical picture of familial continual peeling of the skin is described and discussed together with light and ultramicroscopic manifestations in one of the probands. The pattern of splitting distinguishes this condition from keratolysis exfoliativa. The ultramicroscopy exhibited mainly predominance of low-density keratocytes in the corneal layer, abnormalities in distribution of lamellar granules and disrupted coating of the cells in the intercellular spaces of the corneal layer.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.