title: Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with anFGFR2Missense Mutation.
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 inFGFR2in 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 inFGFR2that was predicted to be damaging. This could explain the multifocal and severe nature of the disease. We suggest screening other, phenotypically similar patients forFGFR2mutations. Our findings, once confirmed independently, could indicate that therapeutic modulation of FGFR signaling in the acne tetrad could be effective.
authors.affiliation: Department of Dermatology, University Hospital of Zurich , Zurich , Switzerland.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Higgins
authors.affiliation: King's College, St John's Institute of Dermatology , London , UK.
authors.forename: Andrew
authors.initials: A
authors.lastname: Pink
authors.affiliation: Department of Dermatology, Inselspital, Bern University Hospital and University of Bern , Bern , Switzerland.
authors.forename: Robert
authors.initials: R
authors.lastname: Hunger
authors.affiliation: Department of Dermatology, Inselspital, Bern University Hospital and University of Bern , Bern , Switzerland.
authors.forename: Nikhil
authors.initials: N
authors.lastname: Yawalkar
authors.affiliation: Department of Dermatology, University Hospital of Zurich, Zurich, Switzerland; King's College, St John's Institute of Dermatology, London, UK.
authors.forename: Alexander A
authors.initials: AA
authors.lastname: Navarini
keywords: acne; comedones; fibroblast growth factor-receptor gene 2; hidradenitis suppurativa; whole exome sequencing