Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome

    August 2005 in “ The American Journal of Dermatopathology ”
    Reuven Bergman, Eli Sprecher
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    TLDR The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
    The study examined the histopathology and ultrastructure of skin biopsies from two female patients with ectodermal dysplasia/skin fragility syndrome (EDSFS), a condition caused by mutations in the PKP1 gene. The biopsies revealed widened intercellular spaces, intraepidermal clefts, blisters, and dyskeratotic keratinocytes, with an increased number of hair follicles in the catagen-telogen phase, indicating a disruption in the hair cycle. Electron microscopy showed reduced desmosomes and detachment of keratin filaments, suggesting that PKP1 dysfunction affects epidermal cohesion and hair cycling. The study, involving 4 biopsies, concluded that PKP1 is crucial for maintaining skin integrity and normal hair growth, and its absence leads to the symptoms of EDSFS.
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