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

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dc.contributor.authorOzcan, Yunus
dc.contributor.authorIlcin, Sevgi
dc.contributor.authorDogan, Mustafa
dc.contributor.authorUyar, Belkiz
dc.date.accessioned2026-07-01T11:39:50Z
dc.date.available2026-07-01T11:39:50Z
dc.date.issued2026
dc.departmentDüzce Üniversitesi
dc.description.abstractKeratosis 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.
dc.identifier.doi10.1093/ced/llag189
dc.identifier.issn0307-6938
dc.identifier.issn1365-2230
dc.identifier.orcid0009-0007-7825-3816
dc.identifier.pmid42049259
dc.identifier.urihttps://doi.org/10.1093/ced/llag189
dc.identifier.urihttps://hdl.handle.net/20.500.12684/23483
dc.identifier.wosWOS:001783245200001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherOxford Univ Press
dc.relation.ispartofClinical and Experimental Dermatology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20260623
dc.subject[Keyword Not Available]
dc.titleDiscovery of a novel hemizygous c.375_389del variant in the MBTPS2 gene in a male patient with keratosis follicularis spinulosa decalvans
dc.typeArticle

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