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Two cases in infantile and familial porphyria cutanea tarda

M J Cruces Prado, R Enriquez de Salamanca, M Verea Hernando

    Dermatologica
    |January 1, 1980
    PubMed

    Insights

    This study identified hereditary porphyria cutanea tarda in two 7-year-old children through characteristic urinary and fecal porphyrin excretion patterns. Familial studies confirmed the hereditary nature of their condition.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Porphyria cutanea tarda (PCT) is a metabolic disorder affecting heme synthesis.
    • Early diagnosis in children is crucial for managing hereditary forms.

    Observation:

    • Two 7-year-old children presented with evident clinical symptoms suggestive of porphyria.
    • Diagnostic evaluation included analysis of urinary and fecal porphyrin excretion patterns.

    Findings:

    • Characteristic porphyrin profiles confirmed the diagnosis of porphyria cutanea tarda in both pediatric cases.
    • Familial investigations indicated a hereditary basis for the observed porphyria in these children.

    Implications:

    • Highlights the importance of porphyrin analysis for diagnosing pediatric PCT.
    • Suggests the need for genetic counseling and screening in families with hereditary porphyria.
    • Underscores the value of early detection in managing hereditary metabolic disorders.

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