Phenylketonuria and scleroderma

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Abstract
Mentally retarded siblings (2), one with severe segmental scleroderma and the other with atrophoderma of Pasini and Pierini, were found at the ages of 6 and 10 yr to have phenylketonuria (PKU). The belief that a common pathomechanism exists between morphea and atrophoderma of Pasini and Pierini is supported by the case of the 2 siblings. Disorders in tryptophan metabolism can occur in both PKU and scleroderma. For a low phenylalanine diet to be effective in PKU, it has to be instituted at an early age. Phenylketonuria should be considered in infants and children with sclerodermatous skin lesions.

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