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Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis

J Mücke, H Willgerodt, R Künzel

    European Journal of Pediatrics
    |March 1, 1985
    PubMed

    Insights

    Proteus syndrome, a rare condition, was first described in 1983. This report details a 10-month-old girl with Proteus syndrome, exhibiting aggressive lipomatosis and local relapses post-surgery.

    Area of Science:

    • Medical Genetics
    • Dermatology
    • Pediatrics

    Background:

    • Proteus syndrome is a rare congenital disorder characterized by asymmetric, progressive overgrowth.
    • First delineated in 1983, it presents with a variable combination of features.

    Observation:

    • This report describes a 10-month-old female infant diagnosed with Proteus syndrome.
    • The patient presented with typical signs including macrodactyly, hemihypertrophy, pigmented nevi, hyperkeratosis, and subcutaneous hamartomatous tumors.
    • Notably, she exhibited aggressive lipomatosis on the trunk with local recurrences after surgical removal.

    Findings:

    • Histological examination of adipose tissue revealed significant anisocytosis (variation in cell size) and increased cell volume.
    • These findings suggest a distinct pattern of lipomatous proliferation within the context of Proteus syndrome.

    Implications:

    • This case expands the clinical spectrum of Proteus syndrome, particularly regarding aggressive lipomatosis.
    • Understanding the histological characteristics of adipose tissue is crucial for managing this rare condition.
    • Further research into the molecular mechanisms underlying Proteus syndrome may elucidate pathways involved in lipomatous overgrowth.

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