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Comment
. 2014 Oct;134(10):2486-2488.
doi: 10.1038/jid.2014.228.

Exoming into rare skin disease: EGFR deficiency

Matthew A Brooke  1 , Edel A O'Toole  2 , David P Kelsell  2
Affiliations
Free article
Comment

Exoming into rare skin disease: EGFR deficiency

Matthew A Brooke et al. J Invest Dermatol. 2014 Oct.
Free article

Abstract

Dermatologists are frequently asked to see patients with pustular eruptions caused by EGFR mAbs or tyrosine kinase inhibitors. In this issue, Campbell et al. describe an infant with severely inflammed skin and bowel and lung disease caused by a homozygous mutation in the EGFR gene. This commentary discusses the power of exome sequencing in disease gene discovery within the rare genodermatoses and the role of aberrant EGFR signaling in a subset of monogenic skin and epithelial syndromes.

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Comment on

  • Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
    Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA. Campbell P, et al. J Invest Dermatol. 2014 Oct;134(10):2570-2578. doi: 10.1038/jid.2014.164. Epub 2014 Apr 1. J Invest Dermatol. 2014. PMID: 24691054 Free PMC article.

References

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