Histopathological and Ultrastructural Study 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.