Case Report: Multiple Facial Trichoepitheliomas Caused by P.Val835SerfsTer52 Variant of Gene

Overview

Journal Front Med (Lausanne)

Specialty General Medicine

Date 2024 Oct 15

PMID 39403278

Authors

Tatiana A Gaydina

Olga I Patsap

Anastasiia A Buianova

Affiliations

Soon will be listed here.

Abstract

Summary: Brooke-Spiegler syndrome (BSS) is an autosomal dominant disease associated with the gene, which manifests itself as multiple benign skin tumors. We presented a young female patient with a previously undescribed heterozygous mutation c.2501dupC (p.Val835SerfsTer52) of the 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 trichoepitheliomas. Radical removal of the largest formations of the facial skin was performed under local infiltration anesthesia with wound treatment with a CO laser in a pulsed-periodic mode. Nevertheless, new formations began to appear on the patient's facial skin of the forehead, upper eyelids, nasolabial triangle, prone to growth and requiring removal. Domain modeling of the mutant protein proved its conformational difference from the wild type, as well as altered physicochemical properties.

Conclusion: The new gene variant p.Val835SerfsTer52 causes the development of multiple familial trichoepitheliomas in BSS and confirms the hypothesis of the association of this gene variant with loss-of-function mutations. We have verified that removing multiple trichoepitheliomas simultaneously with a CO laser does not impede the pathological process. Therefore, hopes are placed on targeted therapy, which is currently not developed for this disease.

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