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;BERNENGO, Maria Grazia
2015

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.
54
5
568
570
Atopic dermatitis; Phenylketonuria
Fava p; Fierro MT; Brizio M; Marra E; Spada M; Bernengo MG
File in questo prodotto:
File Dimensione Formato  
Atopic dermatitis in a phenylketonuric untreated patient word_4aperto.pdf

Accesso aperto

Tipo di file: POSTPRINT (VERSIONE FINALE DELL’AUTORE)
Dimensione 1.67 MB
Formato Adobe PDF
1.67 MB Adobe PDF Visualizza/Apri
atopic dermatitis.pdf

Accesso riservato

Tipo di file: PDF EDITORIALE
Dimensione 268.76 kB
Formato Adobe PDF
268.76 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/156436
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact