Discovery of a novel hemizygous c.375_389del variant in the MBTPS2 gene in a male patient with keratosis follicularis spinulosa decalvans

Ozcan, YunusIlcin, SevgiDogan, MustafaUyar, Belkiz2026-07-012026-07-0120260307-69381365-2230https://doi.org/10.1093/ced/llag189https://hdl.handle.net/20.500.12684/23483Keratosis follicularis spinulosa decalvans is a rare, predominantly X-linked disorder typically associated with MBTPS2 variants. It is characterized by follicular keratosis, cicatricial alopecia and variable ocular involvement. We describe a 32-year-old man with a novel hemizygous MBTPS2 variant (c.375_389del). He presented with ulerythema ophryogenes, erythromelanosis faciei et colli, widespread keratosis pilaris, and multiple facial epidermoid cysts. This report highlights overlapping phenotypic features across the keratosis pilaris atrophicans spectrum and expands the clinical manifestations linked to MBTPS2 mutations.en10.1093/ced/llag189info:eu-repo/semantics/closedAccess[Keyword Not Available]Discovery of a novel hemizygous c.375_389del variant in the MBTPS2 gene in a male patient with keratosis follicularis spinulosa decalvansArticle42049259WOS:001783245200001Q20009-0007-7825-3816