February 2025 in “Journal of Paediatrics and Child Health”
In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.
1 citations
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January 2026 in “Journal of the European Academy of Dermatology and Venereology”
This critique suggests that the prior iconodiagnosis of Vermeer's "Girl with a Pearl Earring" suffers from confirmation bias, arguing that cultural trends, rather than medical conditions, explain the artwork's features.
This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology”
This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.