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Related Experiment Videos

[Congenital reticular ichthyosiform erythroderma].

S Marghescu, I Anton-Lamprecht, P O Rudolph

    Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
    |October 1, 1984
    PubMed
    Summary
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    FASEB journal : official publication of the Federation of American Societies for Experimental Biology·2000
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    A novel substitution in keratin 10 in epidermolytic hyperkeratosis.

    The Journal of investigative dermatology·1999

    This study identifies a unique congenital keratinization disorder with distinct clinical and ultrastructural features, including perinuclear shells and binuclear cells, differentiating it from ichthyosis.

    Area of Science:

    • Dermatology
    • Histopathology
    • Electron Microscopy

    Background:

    • Congenital disturbances of keratinization represent a spectrum of genetic disorders affecting skin barrier function.
    • Differentiating rare keratinization disorders requires detailed clinical, histological, and ultrastructural analysis.

    Observation:

    • A 57-year-old female presented with lifelong generalized cutaneous lesions.
    • Clinical presentation included reticular, band-like areas of erythrokeratotic and pigmented skin.
    • Histopathology revealed parakeratosis, psoriasiform acanthosis, vacuolization, binuclear cells, and dermal amyloid deposits.

    Findings:

    • Ultrastructural examination showed peculiar perinuclear shells formed by fine filaments.
    • Binuclear cells were prevalent from suprabasal layers, with perinuclear edema leading to vacuolization.

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  • The stratum corneum exhibited parakeratosis with nuclear debris and lipid vacuoles.

    • Implications:

    • The unique combination of findings suggests a novel type of congenital keratinization disorder.
    • This condition is distinct from established ichthyosiform dermatoses and other inborn errors of keratinization.
    • While retinoids showed some efficacy, the characteristic ultrastructural changes persisted, indicating a unique pathomechanism.