Pseudoscleroderma and phenylketonuria.
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.
D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D010661:Phenylketonurias / Q000175:diagnosis* / Q000178:diet therapy; D012594:Scleroderma, Localized / Q000175:diagnosis* / Q000178:diet therapy; D012867:Skin / Q000473:pathology