PHENYLKETONURIA WITH SKIN INDURATION AND ATROPHY (MORPHEA, PASINI-PIERINI ATROPHODERMA AND SUBCUTANEOUS ATROPHY)

We report on a case of sclerodermiform phenylketonuria (PKU) followed for over 20 years. The variety of cutaneous lesions observed during di fferent periods of the disease depended upon the extent of the disturb ance of tryptophan (TRY) metabolism and upon the non-adherence to a ph enylalanine-(PHA) deficient diet. Typical, deep indurations of the low er limbs and buttocks which were present in early childhood, regressed after the introduction of a phenylalanine-deficient diet. At the age of 4 years, because of non-adherence to the diet plaques of morphea ap peared and later widespread lesions of atrophoderma Pasini-Pierini (AP P) developed. Unusual, previously unreported deep subcutaneous atrophi es dye to periodic relaxation of the diet were noted. This case provid es evidence for a close relationship of morphea with both APP and subc utaneous atrophy and for a correlation between scleroderma and sclerod erma-like changes and TRY metabolic pathways.