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Phenylketonuria and scleroderma.

A E Lasser, B C Schultz, D Beaff

    Archives of Dermatology
    |August 1, 1978
    PubMed
    Summary
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    Phenylketonuria (PKU) was diagnosed in two siblings with scleroderma and atrophoderma. Early PKU diagnosis and dietary intervention are crucial for children presenting with sclerodermatous skin lesions.

    Area of Science:

    • Genetics
    • Dermatology
    • Metabolic Disorders

    Background:

    • Phenylketonuria (PKU) is a genetic disorder affecting phenylalanine metabolism.
    • Scleroderma and atrophoderma are connective tissue disorders affecting the skin.
    • Tryptophan metabolism disturbances are observed in both PKU and scleroderma.

    Observation:

    • Two siblings diagnosed with intellectual disability presented with distinct dermatological conditions: severe segmental scleroderma and atrophoderma of Pasini and Pierini.
    • The siblings were diagnosed with phenylketonuria (PKU) at ages 6 and 10.

    Findings:

    • The co-occurrence of PKU and distinct sclerodermatous conditions in siblings suggests a potential shared pathomechanism.
    • Disruptions in tryptophan metabolism may link PKU and scleroderma, indicating a common underlying pathway.

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    Implications:

    • Early detection of phenylketonuria is vital, especially in pediatric patients exhibiting sclerodermatous skin manifestations.
    • Considering PKU in the differential diagnosis of infants and children with scleroderma-like skin lesions could lead to earlier intervention and improved outcomes.