Exoming into Rare Skin Disease: EGFR Deficiency Matthew A. Brooke, Edel A. O'Toole, David P. Kelsell  Journal of Investigative Dermatology  Volume 134, Issue 10, Pages 2486-2488 (October 2014) DOI: 10.1038/jid.2014.228 Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 An illustration of EGFR ligand shedding and the interactions of EGFR ligands with members of the ErbB receptor tyrosine kinase family, ErbB1 (EGFR), and ErbB4. Dimerization of ErbB1 with ErbB2 is shown for representative purposes; numerous other receptor homodimers and heterodimers can be formed. AREG, amphiregulin; BTC, betacellulin; EPGN, epigen; EREG, epiregulin; HB-EGF, heparin-binding EGF; TGFα, transforming growth factor-α. Journal of Investigative Dermatology 2014 134, 2486-2488DOI: (10.1038/jid.2014.228) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Hypotrichosis of the eyebrows, trichomegaly, and folliculitis in a patient with ADAM17 deficiency. Image published with patient's consent. Journal of Investigative Dermatology 2014 134, 2486-2488DOI: (10.1038/jid.2014.228) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Journal of Investigative Dermatology 2014 134, 2486-2488DOI: (10 Journal of Investigative Dermatology 2014 134, 2486-2488DOI: (10.1038/jid.2014.228) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions