Atopic dermatitis in a phenylketonuric untreated patient

Phenylketonuria (PKU) is a rare autosomal recessive metabolic disease due to a deficiency of phenylalanine hydroxylase (PAH). Without a dietary restriction of phenylalanine patients will develop profound and irreversible intellectual disability and neurological disturbances; eczema and hypopigmentation of skin and hair are the most common cutaneous findings in PKU. We report the case of a 44 years-old caucasian male with PKU complicated with atopic dermatitis in which dietary restriction of phenylalanine leaded to complete remission of cutaneous lesions.