Case report: Multiple facial trichoepitheliomas caused by p.Val835SerfsTer52 variant of CYLD gene
Tatiana A. Gaydina,
Olga I. Patsap,
Anastasiia A. Buianova
Abstract:SummaryBrooke–Spiegler syndrome (BSS) is an autosomal dominant disease associated with the CYLD gene, which manifests itself as multiple benign skin tumors. We presented a young female patient with a previously undescribed heterozygous de novo mutation c.2501dupC (p.Val835SerfsTer52) of the CYLD gene. The nucleotide sequence variant was detected by clinical exome sequencing and validated by Sanger sequencing in her parents and sister. A histological examination of the elements identified multiple trichoepithel… Show more
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