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.

Atopic dermatitis in a phenylketonuric untreated patient

FAVA, PAOLO;FIERRO, Maria Teresa
;
BRIZIO, Matteo Giovanni;Spada M;BERNENGO, Maria Grazia
2015-01-01

Abstract

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.
2015
54
5
568
570
Atopic dermatitis; Phenylketonuria
Fava p; Fierro MT; Brizio M; Marra E; Spada M; Bernengo MG
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/156436
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