Guillet G Y, Dore N, Hehunstre J P, Maleville J, Battin J
Int J Dermatol. 1983 Sep;22(7):422-6. doi: 10.1111/j.1365-4362.1983.tb02163.x.
An infant girl with partial phenylketonuria developed pseudoscleroderma. After six years of follow up, both the neurologic and cutaneous conditions improved under a phenylalanine restricted diet. The probable roles of phenylalanine, tryptophan, tyrosine, and their metabolites may cause both conditions through possible transient hypersensitivity of cutaneous and muscular tissues.
一名患有部分苯丙酮尿症的女婴出现了假性硬皮病。经过六年的随访,在限制苯丙氨酸饮食的情况下,神经和皮肤状况均有所改善。苯丙氨酸、色氨酸、酪氨酸及其代谢产物可能通过皮肤和肌肉组织可能的短暂超敏反应导致这两种情况。