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This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.

In this report, the researchers described a follicular dysplastic syndrome in two adult white-tailed deer, where gross alopecia and histologic signs suggestive of alopecia areata were observed, potentially predisposing affected deer to environmental exposure.

This case report describes a 16-year-old with ectrodactyly-ED-clefting syndrome, where scarring alopecia with follicular involvement appeared during puberty, possibly due to anatomic hair abnormalities.

This review discusses various noninflammatory alopecias in horses, particularly alopecia areata, and reports no new treatment results, emphasizing the need for differential diagnosis through examination and biopsy.