edoc

Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an; FGFR2 Missense Mutation

Higgins, Rebecca and Pink, Andrew and Hunger, Robert and Yawalkar, Nikhil and Navarini, Alexander A.. (2017) Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an; FGFR2 Missense Mutation. Frontiers in Medicine, 4 (16).

Full text not available from this repository.

Official URL: https://edoc.unibas.ch/72859/

Downloads: Statistics Overview

Abstract

Mutations in the fibroblast growth factor-receptor gene 2 (; FGFR2; ) gene have been implicated in numerous diseases, including nevus comedonicus (NC) and naevoid acne that have somatic missense mutations in; FGFR2; in the affected tissue. A patient presented in our department with unusual, innumerable large comedones throughout his back reminiscient of NC, as well as multifocal hidradenitis suppurativa and acne. Topical and systemic treatments were unsuccessful. Whole exome sequencing of blood-derived DNA detected a germline mutation in; FGFR2; that was predicted to be damaging. This could explain the multifocal and severe nature of the disease. We suggest screening other, phenotypically similar patients for; FGFR2; mutations. Our findings, once confirmed independently, could indicate that therapeutic modulation of FGFR signaling in the acne tetrad could be effective.
Faculties and Departments:03 Faculty of Medicine > Bereich Spezialf├Ącher (Klinik) > Dermatologie USB > Dermatologie (Navarini)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialf├Ącher (Klinik) > Dermatologie USB > Dermatologie (Navarini)
UniBasel Contributors:Navarini, Alexander
Item Type:Article, refereed
Article Subtype:Further Journal Contribution
ISSN:2296-858X
Note:Publication type according to Uni Basel Research Database: Journal item
Identification Number:
Last Modified:31 Mar 2020 17:22
Deposited On:31 Mar 2020 17:22

Repository Staff Only: item control page