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

Higgins, Rebecca; Pink, Andrew; Hunger, Robert; Yawalkar, Nikhil; Navarini, Alexander A (2017). Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an FGFR2 Missense Mutation. Frontiers in medicine, 4, p. 16. Frontiers 10.3389/fmed.2017.00016

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Dermatology

UniBE Contributor:

Hunger, Robert and Yawalkar, Nikhil

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2296-858X

Publisher:

Frontiers

Language:

English

Submitter:

Sandra Nyffenegger

Date Deposited:

19 Mar 2018 10:29

Last Modified:

19 Mar 2018 10:29

Publisher DOI:

10.3389/fmed.2017.00016

PubMed ID:

28293556

Uncontrolled Keywords:

acne comedones fibroblast growth factor-receptor gene 2 hidradenitis suppurativa whole exome sequencing

BORIS DOI:

10.7892/boris.110225

URI:

https://boris.unibe.ch/id/eprint/110225

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