Lasser A E, Schultz B C, Beaff D, Bielinski S, Kirschenbaum B
Arch Dermatol. 1978 Aug;114(8):1215-7.
Two mentally retarded siblings, one with severe segmental scleroderma and the other with atrophoderma of Pasini and Pierini, were found at the ages of 6 and 10 years 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 two 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.
两名智力发育迟缓的兄弟姐妹，其中一名患有严重节段性硬皮病，另一名患有帕西尼和皮耶里尼型皮萎缩，分别在6岁和10岁时被发现患有苯丙酮尿症（PKU）。这两名兄弟姐妹的病例支持了硬斑病与帕西尼和皮耶里尼型皮萎缩之间存在共同发病机制的观点。色氨酸代谢紊乱在PKU和硬皮病中均可能发生。对于PKU患者，低苯丙氨酸饮食必须在幼年时开始实施才有效。对于患有硬皮病样皮肤病变的婴幼儿和儿童，应考虑苯丙酮尿症的可能。
