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Updated: Apr 23, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
Exoming into rare skin disease: EGFR deficiency
Matthew A Brooke1, Edel A O'Toole1, David P Kelsell1
1Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
None:
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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