31 citations
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August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
June 2026 in “Clinical Case Reports” This case report observed a 5.5-year-old girl with Ectodermal Dysplasia-Syndactyly Syndrome 1, who experienced improved hair density and thickness with topical minoxidil and tretinoin, suggesting a potential adjunctive role for topical retinoids, though confirmation in larger studies is needed.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.