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

Hidradenitis suppurativa Research


Author(s): Higgins R, Pink A, Hunger R, Yawalkar N, Navarini AA

Mutations in the fibroblast growth factor-receptor gene 2 () gene have been implicated in numerous diseases, including nevus comedonicus (NC) and naevoid acne that have somatic missense mutations in 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 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 mutations. Our findings, once confirmed independently, could indicate that therapeutic modulation of FGFR signaling in the acne tetrad could be effective.


Dermatology Journal and/or Publisher

Journal Name: Frontiers in medicine
Journal Abbreviation: Front Med (Lausanne)
Journal Date Published:


National Center for Biotechnology Information

PMID: 28293556
Article Source: http://www.ncbi.nlm.nih.gov/pubmed/28293556
Lasted Revision: 2017-08-16


Abstract Source: National Center for Biotechnology Information, U.S. National Library of Medicine Abstract Query for Hidradenitis suppurativa (HS).


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